Perceived risk of prenatal diagnostic procedure-related miscarriage and Down syndrome among pregnant women.

Science.gov (United States)

Caughey, Aaron B; Washington, A Eugene; Kuppermann, Miriam

2008-03-01

The objective of the study was to identify correlates of perceived risk of carrying a Down syndrome-affected fetus or experiencing a procedure-related miscarriage among a diverse group of pregnant women. We conducted a cross-sectional survey of 1081 English-, Spanish-, or Chinese-speaking women receiving prenatal care in the San Francisco Bay area. Perceived risk of procedure-related miscarriage or carrying a Down syndrome-affected fetus was assessed using a linear rating scale from 0 (no risk) to 1 (high risk). Bivariate and multivariable analyses were used to explore associations between maternal characteristics including age, race/ethnicity, and socioeconomic status and perceived risks of carrying a Down syndrome-affected fetus or experiencing a procedure-related miscarriage. Women aged 35 years old or older had a higher perceived risk of Down syndrome than younger women (0.28 vs 0.22 on a scale from 0 to 1, P self-perceived health status (+0.08, P = .045). Latinas (+0.11, P = .008), women with an annual income less than $35,000 (+0.09, P = .003), and those who had difficulty conceiving (+0.09, P = .026) had higher perceived procedure-related miscarriage risk. Among women aged 35 years or older, perceived risk of carrying a Down syndrome-affected fetus was associated with the inclination to undergo prenatal diagnosis. Women's perceived risks of carrying a Down syndrome-affected fetus or having a procedure-related miscarriage are associated with numerous characteristics that have not been shown to be associated with the actual risks of these events. These perceived risks are associated with prenatal diagnostic test inclination. Understanding patients' risk perceptions and effectively communicating risk is critical to helping patients make informed decisions regarding use of invasive prenatal testing.

Attitudes of pregnant women and male partners towards non-invasive prenatal testing and widening the scope of prenatal screening

NARCIS (Netherlands)

van Schendel, Rachèl V.; Kleinveld, Johanna H.; Dondorp, Wybo J.; Pajkrt, Eva; Timmermans, Danielle R. M.; Holtkamp, Kim C. A.; Karsten, Margreet; Vlietstra, Anne L.; Lachmeijer, Augusta M. A.; Henneman, Lidewij

2014-01-01

Non-invasive prenatal testing (NIPT) and its potential to test for multiple disorders has received much attention. This study explores attitudes of women and men towards NIPT, and their views on widening the scope of prenatal testing in a country with a low uptake of prenatal screening (The

The Challenge of Prenatal Diagnostic Work-Up of Maternally Inherited X-Linked Opitz G/BBB: Case Report and Literature Review

Directory of Open Access Journals (Sweden)

Marialuigia Spinelli

2015-01-01

Full Text Available Background. Prenatal diagnosis of Optiz G/BBB syndrome (OS is challenging because the characteristic clinical features, such as facial and genitourinary anomalies, may be subtle at sonography and rather unspecific. Furthermore, molecular testing of the disease gene is not routinely performed, unless a specific diagnosis is suggested. Method. Both familial and ultrasound data were used to achieve the diagnosis of X-linked OS (XLOS, which was confirmed by molecular testing of MID1 gene (Xp22.3 at birth. Results. Sequencing of MID1 gene disclosed the nucleotide change c.1285 +1 G>T, previously associated with XLOS. Conclusions. This case illustrates current challenges of the prenatal diagnostic work-up of XLOS and exemplifies how clinical investigation, including family history, and accurate US foetal investigations can lead to the correct diagnosis.

Non-Invasive Prenatal Testing: Review of Ethical, Legal and Social Implications

Directory of Open Access Journals (Sweden)

Haidar, Hazar

2016-02-01

Full Text Available Non-invasive prenatal testing (NIPT using cell-free fetal DNA (cffDNA from maternal blood has recently entered clinical practice in many countries, including Canada. This test can be performed early during pregnancy to detect Down syndrome and other conditions. While NIPT promises numerous benefits, it also has challenging ethical, legal and social implications (ELSI. This paper reviews concerns currently found in the literature on the ELSI of NIPT. We make four observations. First, NIPT seems to exacerbate some of the already existing concerns raised by other prenatal tests (amniocentesis and maternal serum screening such as threats to women’s reproductive autonomy and the potential for discrimination and stigmatization of disabled individuals and their families. This may be due to the likely upcoming large scale implementation and routinization of NIPT. Second, the distinction between NIPT as a screening test (as it is currently recommended and as a diagnostic test (potentially in the future, has certain implications for the ELSI discussion. Third, we observed a progressive shift in the literature from initially including mostly conceptual analysis to an increasing number of empirical studies. This demonstrates the contribution of empirical bioethics approaches as the technology is being implemented into clinical use. Finally, we noted an increasing interest in equity and justice concerns regarding access to NIPT as it becomes more widely implemented.

[Diagnostic value of power Doppler ultrasonography for Sirenomelia Seguence in prenatal].

Science.gov (United States)

Yan, Xia-yu; Yang, Tai-zhu; Luo, Hong; Tian, Yu; Yang, Fan

2011-11-01

To study and discuss the diagnostic value and ultrasonographic characteristics of power doppler ultrasound in the prenatal diagnosis of Sirenomelia Seguence. The abdominal aorta in two fetuses with sirenomelia seguence fetuses and in ten with nomal was reviewed and compared with two-dimensional power doppler ultrasound and three-dimensional power doppler ultrasound in prenatal. The abdominal aorta were showed to divid into renal arteries in the kidney level while two common iliac arteries in the pelvis in nomal fetuses with two-dimensional power doppler ultrasound and three-dimensional power doppler ultrasound; compared with the nomal, the abdominal aorta and whose branches in sirenomelia seguence were demonstrated as follows: 1) a large and deformed vascular coming from the high abdominal aorta, which was found to act as a umbilical artery by careful examination; 2) no bifurcation of renal arteries identified; 3) no bifurcation of two common iliac arteries identified; 4) the abdominal aorta changing into a narrow vascular after one deformed vascular separating from. Sirenomelia seguence fetuses has a characteristic change in two-dimensional power doppler ultrasound and three-dimensional power doppler ultrasound, which is helpful to improve the prenatal diagnosis of sirenomelia seguence.

[Innovative Prenatal Testing: Clinical Applications and Ethical Considerations].

Science.gov (United States)

Huang, Mei-Chih; Lin, Shio-Jean; Chen, Chih-Ling; Huang, Tzu-Jung

2017-10-01

The biomedical technology related to prenatal screen/diagnosis has developed rapidly in recent decades. Many prenatal genetic examinations are now available to assist pregnant women to better understand the status and development of their fetus. Moreover, many commercial advertisements for innovative prenatal examinations are now shown in the media. Cell-free DNA Screening (cfDNA screening), a non-invasive prenatal testing (NIPT) procedure, is a safe and high accuracy test that may be done at an earlier gestational age to screen for fetal aneuploidy. The following questions should be considered when applying cfDNA screening in clinical practice: 1. what is cfDNA screening, 2. who are its potential users, and 3. what ethical and policy considerations are associated with this examination? This article provides relevant information, clinical practice guidelines, and ethical / policy considerations related to cfDNA screening. Discussing cases involving different clinical situations helps promote understanding of cfDNA screening and maternal-care quality.

[Recent advances in prenatal diagnostics].

Science.gov (United States)

Lapaire, O; Holzgreve, W; Miny, P; Hösli, I; Hahn, S; Tercanli, S

2006-11-01

During the last years, technical improvements have increased the possibilities in prenatal ultrasound. During the eighties and nineties, fetal malformations were increasingly detected and specified. Since a few years, the measurement of the fetal nuchal translucency between 11 and 14 weeks of gestation has been implemented to calculate the individual risk, in combination with most recent biochemical markers. Today, the sonographic measurement of the nuchal translucency is regarded as a valuable screening tool for chromosomal anomalies in prenatal medicine. Beside standardized examinations, a profound information and counseling of the pregnant women should be emphasized. With the improvement of the specific maternal risk calculation, using the sonographic measurement of the nuchal translucency, the biochemical markers and the maternal age, unnecessary invasive examinations may be prevented and their overall number can significantly be reduced. The same trend is seen in the whole field of prenatal medicine, illustrated by the detection of the fetal rhesus D status from the maternal blood and the use of Doppler ultrasound in the management of fetal anemia.

The usage and current approaches of cell free fetal DNA (cffDNA as a prenatal diagnostic method in fetal aneuploidy screening

Directory of Open Access Journals (Sweden)

Hülya Erbaba

2015-12-01

Full Text Available Prenatal diagnosis of invasive and noninvasive tests can be done in a way (NIPT, but because of the invasive methods have risks of infection and abortion, diagnosing non-invasive procedure increasing day by day. One of the widespread cell free fetal DNA in maternal blood test (cffDNA that is increasing in clinical use has been drawing attention. The incidence of aneuploidy chromosomal anomaly of the kind in which all live births; Trisomy 21 (Down Syndrome 1/800, trisomy 13 (Patau syndrome 1 /10,000, trisomy 18 (Edwards syndrome is a form of 1/6000. Because of the high mortality and morbidity, it is vital that congenital anomalies should be diagnosed in prenatal period. Aneuploidy testing for high-risk pregnant women after the 10th week of pregnancy in terms of the blood sample is taken and free fetal DNA in maternal plasma is based on the measurement of the relative amount. Knowledge of the current criteria for use by healthcare professionals in the field test will allow the exclusion of maternal and fetal risks. In this study, it is aimed to demonstrate current international approaches related to the positive and negative sides of non-invasive that is one of the prenatal diagnostic methods of cffDNA test. J Clin Exp Invest 2015; 6 (4: 414-417

Prenatal genetic testing, counseling and follow-up of 33 Egyptian ...

African Journals Online (AJOL)

Khaled R. Gaber

2015-02-21

Feb 21, 2015 ... revealed 36.8% (14/33) affected fetuses. During the final .... uated during the course of the study, making them 37 pregnan- cies evaluated and .... Prenatal diagnostic techniques have rendered decision mak- ing about ... This, in addition to the feeling of guilt experienced by many couples for termi- nation of ...

Quality of prenatal care questionnaire: instrument development and testing.

Science.gov (United States)

Heaman, Maureen I; Sword, Wendy A; Akhtar-Danesh, Noori; Bradford, Amanda; Tough, Suzanne; Janssen, Patricia A; Young, David C; Kingston, Dawn A; Hutton, Eileen K; Helewa, Michael E

2014-06-03

Utilization indices exist to measure quantity of prenatal care, but currently there is no published instrument to assess quality of prenatal care. The purpose of this study was to develop and test a new instrument, the Quality of Prenatal Care Questionnaire (QPCQ). Data for this instrument development study were collected in five Canadian cities. Items for the QPCQ were generated through interviews with 40 pregnant women and 40 health care providers and a review of prenatal care guidelines, followed by assessment of content validity and rating of importance of items. The preliminary 100-item QPCQ was administered to 422 postpartum women to conduct item reduction using exploratory factor analysis. The final 46-item version of the QPCQ was then administered to another 422 postpartum women to establish its construct validity, and internal consistency and test-retest reliability. Exploratory factor analysis reduced the QPCQ to 46 items, factored into 6 subscales, which subsequently were validated by confirmatory factor analysis. Construct validity was also demonstrated using a hypothesis testing approach; there was a significant positive association between women's ratings of the quality of prenatal care and their satisfaction with care (r = 0.81). Convergent validity was demonstrated by a significant positive correlation (r = 0.63) between the "Support and Respect" subscale of the QPCQ and the "Respectfulness/Emotional Support" subscale of the Prenatal Interpersonal Processes of Care instrument. The overall QPCQ had acceptable internal consistency reliability (Cronbach's alpha = 0.96), as did each of the subscales. The test-retest reliability result (Intra-class correlation coefficient = 0.88) indicated stability of the instrument on repeat administration approximately one week later. Temporal stability testing confirmed that women's ratings of their quality of prenatal care did not change as a result of giving birth or between the early postpartum

Quality of prenatal care questionnaire: instrument development and testing

Science.gov (United States)

2014-01-01

Background Utilization indices exist to measure quantity of prenatal care, but currently there is no published instrument to assess quality of prenatal care. The purpose of this study was to develop and test a new instrument, the Quality of Prenatal Care Questionnaire (QPCQ). Methods Data for this instrument development study were collected in five Canadian cities. Items for the QPCQ were generated through interviews with 40 pregnant women and 40 health care providers and a review of prenatal care guidelines, followed by assessment of content validity and rating of importance of items. The preliminary 100-item QPCQ was administered to 422 postpartum women to conduct item reduction using exploratory factor analysis. The final 46-item version of the QPCQ was then administered to another 422 postpartum women to establish its construct validity, and internal consistency and test-retest reliability. Results Exploratory factor analysis reduced the QPCQ to 46 items, factored into 6 subscales, which subsequently were validated by confirmatory factor analysis. Construct validity was also demonstrated using a hypothesis testing approach; there was a significant positive association between women’s ratings of the quality of prenatal care and their satisfaction with care (r = 0.81). Convergent validity was demonstrated by a significant positive correlation (r = 0.63) between the “Support and Respect” subscale of the QPCQ and the “Respectfulness/Emotional Support” subscale of the Prenatal Interpersonal Processes of Care instrument. The overall QPCQ had acceptable internal consistency reliability (Cronbach’s alpha = 0.96), as did each of the subscales. The test-retest reliability result (Intra-class correlation coefficient = 0.88) indicated stability of the instrument on repeat administration approximately one week later. Temporal stability testing confirmed that women’s ratings of their quality of prenatal care did not change as a result of giving

On what grounds do women participate in prenatal screening?

DEFF Research Database (Denmark)

Santalahti, P; Aro, A R; Hemminki, E

1998-01-01

, and diagnostic tests and their risks. Knowledge was poorer among women without a high school education. When counselling women about prenatal screening tests, more emphasis should be given to the sensitivity of serum screening, all of its screening uses, and the possible diagnostic tests and their risks...... of a procedure. The aim of this study was to examine Finnish women's knowledge and perceptions of, and stated reasons to participate in, two prenatal screening tests: serum screening and mid-trimester ultrasound screening. Subjects (n=1035) for the serum screening survey were catered for in the maternity care...... centres of two Finnish towns, where serum screening is available for all pregnant women. After one reminder, 88 per cent returned the questionnaire. Subjects (n=497) for the mid-trimester ultrasound screening survey were catered for in the obstetrical and gynaecological outpatient clinic of the city...

From a genetic innovation to mass health programmes: the diffusion of Down's Syndrome prenatal screening and diagnostic techniques in France.

Science.gov (United States)

Vassy, Carine

2006-10-01

Down's Syndrome prenatal diagnostic and screening techniques have spread widely in France over the last 30 years and are now part of the routine clinical practice of prenatal care. These techniques, which originated in the field of genetics, ultrasonography and biochemistry, were the first to provide the possibility of choosing the features of the foetus, or at least to reject some of its characteristics. They lead to new norms of healthy foetuses and a progressive acceptance of medical abortions. The aim of this paper is to understand how the use of these tests has been generalised in France despite scientific controversies about their risks and ethical questioning about a potential renewal of eugenics. It analyses the representations of public needs that have been articulated by key players in the scientific and medical fields. This research explores political and administrative decision making processes to understand how progressively widening public access to prenatal testing has been organised and funded. The results highlight the scientific and political role of biomedical researchers, the forms of involvement of health authorities and politicians, and the passive participation of the vast majority of the users. The paper also examines the characteristics of the French health system that facilitated the generalised use of the technology.

Non-invasive prenatal cell-free fetal DNA testing for down syndrome and other chromosomal abnormalities

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Darija Strah

2015-12-01

Full Text Available Background: Chorionic villus sampling and amniocentesis as definitive diagnostic procedures represent a gold standard for prenatal diagnosis of chromosomal abnormalities. The methods are invasive and lead to a miscarriage and fetal loss in approximately 0.5–1 %. Non-invasive prenatal DNA testing (NIPT is based on the analysis of cell-free fetal DNA from maternal blood. It represents a highly accurate screening test for detecting the most common fetal chromosomal abnormalities. In our study we present the results of NIPT testing in the Diagnostic Center Strah, Slovenia, over the last 3 years.Methods: In our study, 123 pregnant women from 11th to 18th week of pregnancy were included. All of them had First trimester assessment of risk for trisomy 21, done before NIPT testing.Results: 5 of total 6 high-risk NIPT cases (including 3 cases of Down syndrome and 2 cases of Klinefelter’s syndrome were confirmed by fetal karyotyping. One case–Edwards syndrome was false positive. Patau syndrome, triple X syndrome or Turner syndrome were not observed in any of the cases. Furthermore, there were no false negative cases reported. In general, NIPT testing had 100 % sensitivity (95 % confidence interval: 46.29 %–100.00 % and 98.95 % specificity (95 % confidence interval: 93.44 %–99.95 %. In determining Down syndrome alone, specificity (95 % confidence interval: 95.25 %- 100.00 % and sensitivity (95 % confidence interval: 31.00 %–100.00 % turned out to be 100 %. In 2015, the average turnaround time for analysis was 8.3 days from the day when the sample was taken. Repeated blood sampling was required in 2 cases (redraw rate = 1.6 %.Conclusions: Our results confirm that NIPT represents a fast, safe and highly accurate advanced screening test for most common chromosomal abnormalities. In current clinical practice, NIPT would significantly decrease the number of unnecessary invasive procedures and the rate of fetal

Commercial landscape of noninvasive prenatal testing in the United States.

Science.gov (United States)

Agarwal, Ashwin; Sayres, Lauren C; Cho, Mildred K; Cook-Deegan, Robert; Chandrasekharan, Subhashini

2013-06-01

Cell-free fetal DNA-based noninvasive prenatal testing (NIPT) could significantly change the paradigm of prenatal testing and screening. Intellectual property (IP) and commercialization promise to be important components of the emerging debate about clinical implementation of these technologies. We have assembled information about types of testing, prices, turnaround times, and reimbursement of recently launched commercial tests in the United States from the trade press, news articles, and scientific, legal, and business publications. We also describe the patenting and licensing landscape of technologies underlying these tests and ongoing patent litigation in the United States. Finally, we discuss how IP issues may affect clinical translation of NIPT and their potential implications for stakeholders. Fetal medicine professionals (clinicians and researchers), genetic counselors, insurers, regulators, test developers, and patients may be able to use this information to make informed decisions about clinical implementation of current and emerging noninvasive prenatal tests. © 2013 John Wiley & Sons, Ltd.

Uptake of prenatal HIV testing in Hai Phong Province, Vietnam

DEFF Research Database (Denmark)

Nguyen, Lan; Christoffersen, Sarah Vigh; Rasch, Vibeke

2010-01-01

The objective of the study is to describe the uptake of prenatal HIV testing among Vietnamese women. Exit interviews were conducted among 300 women who had delivered at Hai Phong obstetrical hospital. Information about socioeconomic characteristics and HIV testing was obtained through structured ...... for HIV during prenatal care and that a relationship exists between distance to the hospital and lack of HIV testing during pregnancy.......The objective of the study is to describe the uptake of prenatal HIV testing among Vietnamese women. Exit interviews were conducted among 300 women who had delivered at Hai Phong obstetrical hospital. Information about socioeconomic characteristics and HIV testing was obtained through structured...... questionnaire interviews. It was found that 45% of the women were tested for HIV before the end of 34 weeks of gestation, 5% in 35 to 40 weeks of gestation, and 55% at labor. Low educational levels, being a farmer or worker, having a low income, and living close to the hospital were associated with being tested...

Impact of prenatal screening on the prevalence of Down syndrome in Slovenia.

Science.gov (United States)

Rudolf, Gorazd; Tul, Nataša; Verdenik, Ivan; Volk, Marija; Brezigar, Anamarija; Kokalj Vokač, Nadja; Jeršin, Nataša; Prosenc, Bernarda; Premru Sršen, Tanja; Peterlin, Borut

2017-01-01

To evaluate the impact of prenatal screening and genetic testing for trisomy 21 (T21) on the prevalence of T21 in Slovenia. Data about all prenatally and postnatally confirmed cases of T21 in Slovenia between 1981 and 2012 were collected retrospectively from all genetic laboratories in Slovenia. The expected number of babies with T21 according to maternal age was calculated. The primary outcomes measures were number of fetuses and newborn infants with T21 diagnosed prenatally and postnatally and the impact of advances in screening and genetic diagnostics on the prevalence of newborns with T21 in Slovenia. Despite a significantly increased mean maternal age from 25.4 years in year 1981 to 30.3 years in year 2012 the prevalence of newborn infants with T21 was 0.51 per 1000 births compared to 0.55 per 1000 births, respectively. The prevalence of prenatally diagnosed cases increased from 0.03 per 1000 births to 2.06 per 1000. The detection rate of T21 in year 2012 was 78,9%. The total number of prenatal invasive procedures (chorionic villous sampling and amniocenteses) carried out during that period was rising until 2002, since when it is stable at around 7%. The advancement and implementation of screening tests and prenatal diagnostic procedures in Slovenia caused an important improvement in the efficiency of the prenatal detection of T21.

Prenatal screening: current practice, new developments, ethical challenges.

Science.gov (United States)

de Jong, Antina; Maya, Idit; van Lith, Jan M M

2015-01-01

Prenatal screening pathways, as nowadays offered in most Western countries consist of similar tests. First, a risk-assessment test for major aneuploides is offered to pregnant women. In case of an increased risk, invasive diagnostic tests, entailing a miscarriage risk, are offered. For decades, only conventional karyotyping was used for final diagnosis. Moreover, several foetal ultrasound scans are offered to detect major congenital anomalies, but the same scans also provide relevant information for optimal support of the pregnancy and the delivery. Recent developments in prenatal screening include the application of microarrays that allow for identifying a much broader range of abnomalities than karyotyping, and non-invasive prenatal testing (NIPT) that enables reducing the number of invasive tests for aneuploidies considerably. In the future, broad NIPT may become possible and affordable. This article will briefly address the ethical issues raised by these technological developments. First, a safe NIPT may lead to routinisation and as such challenge the central issue of informed consent and the aim of prenatal screening: to offer opportunity for autonomous reproductive choice. Widening the scope of prenatal screening also raises the question to what extent 'reproductive autonomy' is meant to expand. Finally, if the same test is used for two different aims, namely detection of foetal anomalies and pregnancy-related problems, non-directive counselling can no longer be taken as a standard. Our broad outline of the ethical issues is meant as an introduction into the more detailed ethical discussions about prenatal screening in the other articles of this special issue. © 2014 John Wiley & Sons Ltd.

Impact of prenatal screening on the prevalence of Down syndrome in Slovenia.

Directory of Open Access Journals (Sweden)

Gorazd Rudolf

Full Text Available To evaluate the impact of prenatal screening and genetic testing for trisomy 21 (T21 on the prevalence of T21 in Slovenia.Data about all prenatally and postnatally confirmed cases of T21 in Slovenia between 1981 and 2012 were collected retrospectively from all genetic laboratories in Slovenia. The expected number of babies with T21 according to maternal age was calculated.The primary outcomes measures were number of fetuses and newborn infants with T21 diagnosed prenatally and postnatally and the impact of advances in screening and genetic diagnostics on the prevalence of newborns with T21 in Slovenia.Despite a significantly increased mean maternal age from 25.4 years in year 1981 to 30.3 years in year 2012 the prevalence of newborn infants with T21 was 0.51 per 1000 births compared to 0.55 per 1000 births, respectively. The prevalence of prenatally diagnosed cases increased from 0.03 per 1000 births to 2.06 per 1000. The detection rate of T21 in year 2012 was 78,9%. The total number of prenatal invasive procedures (chorionic villous sampling and amniocenteses carried out during that period was rising until 2002, since when it is stable at around 7%.The advancement and implementation of screening tests and prenatal diagnostic procedures in Slovenia caused an important improvement in the efficiency of the prenatal detection of T21.

Prenatal RhD Testing : A Review of Studies Published from 2006 to 2008

NARCIS (Netherlands)

Legler, Tobias Joerg; Mueller, Sina Patricia; Haverkamp, Alexander; Grill, Simon; Hahn, Sinuhe

2009-01-01

The availability of noninvasive prenatal diagnosis for the fetal RhD status (NIPD RhD) is an obvious benefit for alloimmunized pregnant women. This review gives information about the performance characteristics of current diagnostic technologies and recent promising proof-of-principle studies.

Women's opinions of legal requirements for drug testing in prenatal care.

Science.gov (United States)

Tucker Edmonds, Brownsyne; Mckenzie, Fatima; Austgen, MacKenzie B; Carroll, Aaron E; Meslin, Eric M

2017-07-01

To explore women's attitudes and perceptions regarding legal requirements for prenatal drug testing. Web-based survey of 500 US women (age 18-45) recruited from a market research survey panel. A 24-item questionnaire assessed their opinion of laws requiring doctors to routinely verbal screen and urine drug test patients during pregnancy; recommendations for consequences for positive drug tests during pregnancy; and opinion of laws requiring routine drug testing of newborns. Additional questions asked participants about the influence of such laws on their own care-seeking behaviors. Data were analyzed for associations between participant characteristics and survey responses using Pearson's chi-squared test. The majority of respondents (86%) stated they would support a law requiring verbal screening of all pregnant patients and 73% would support a law requiring universal urine drug testing in pregnancy. Fewer respondents were willing to support laws that required verbal screening or urine drug testing (68% and 61%, respectively) targeting only Medicaid recipients. Twenty-one percent of respondents indicated they would be offended if their doctors asked them about drug use and 14% indicated that mandatory drug testing would discourage prenatal care attendance. Women would be more supportive of policies requiring universal rather than targeted screening and testing for prenatal drug use. However, a noteworthy proportion of women would be discouraged from attending prenatal care - a reminder that drug testing policies may have detrimental effects on maternal child health.

Eugenics and Mandatory Informed Prenatal Genetic Testing: A Unique Perspective from China.

Science.gov (United States)

Zhang, Di; Ng, Vincent H; Wang, Zhaochen; Zhai, Xiaomei; Lie, Reidar K

2016-08-01

The application of genetic technologies in China, especially in the area of prenatal genetic testing, is rapidly increasing in China. In the wealthy regions of China, prenatal genetic testing is already very widely adopted. We argue that the government should actively promote prenatal genetic testing to the poor areas of the country. In fact, the government should prioritize resources first to make prenatal genetic testing a standard routine care with an opt-out model in these area. Healthcare professions would be required to inform pregnant women about the availability of genetic testing and provide free testing on a routine basis unless the parents choose not to do so. We argue that this proposal will allow parents to make a more informed decision about their reproductive choices. Secondarily, this proposal will attract more healthcare professionals and other healthcare resources to improve the healthcare infrastructures in the less-developed regions of the country. This will help to reduce the inequity of accessing healthcare services between in different regions of China. We further argue that this policy proposal is not practicing eugenics. © 2015 John Wiley & Sons Ltd.

Development of new technological applications for post- and prenatal diagnosis of the hemoglobinopathies

OpenAIRE

Phylipsen, Marion

2013-01-01

Hemoglobinopathies (HbP) are recessive hereditary disorders of hemoglobin, characterized by microcytic hypochromic anemia. HbP diagnostics encompasses three specialties: hematological, biochemical and molecular testing. Results of all tests together form the complete diagnosis. The main objective of this thesis was to improve post- and prenatal diagnostics of the hemoglobinopathies. Several molecular assays have been designed, tested and validated. In addition, a number of informative hemoglo...

Prenatal Diagnosis

Directory of Open Access Journals (Sweden)

Ozge Ozalp Yuregir

2012-02-01

Full Text Available Prenatal diagnosis is the process of determining the health or disease status of the fetus or embryo before birth. The purpose is early detection of diseases and early intervention when required. Prenatal genetic tests comprise of cytogenetic (chromosome assessment and molecular (DNA mutation analysis tests. Prenatal testing enables the early diagnosis of many diseases in risky pregnancies. Furthermore, in the event of a disease, diagnosing prenatally will facilitate the planning of necessary precautions and treatments, both before and after birth. Upon prenatal diagnosis of some diseases, termination of the pregnancy could be possible according to the family's wishes and within the legal frameworks. [Archives Medical Review Journal 2012; 21(1.000: 80-94

Noninvasive prenatal testing: the future is now.

Science.gov (United States)

Norwitz, Errol R; Levy, Brynn

2013-01-01

Prenatal detection of chromosome abnormalities has been offered for more than 40 years, first by amniocentesis in the early 1970s and additionally by chorionic villus sampling (CVS) in the early 1980s. Given the well-recognized association between increasing maternal age and trisomy,1-3 the primary utilization of prenatal testing has been by older mothers. This has drastically reduced the incidence of aneuploid children born to older mothers.4 Although younger women have relatively low risks of conceiving a child with aneuploidy, the majority of pregnant women are in their late teens, 20s, and early 30s. As such, most viable aneuploid babies are born to these younger mothers.5 Invasive prenatal diagnosis (CVS and amniocentesis) is not a feasible option for all low-risk mothers, as these procedures carry a small but finite risk and would ultimately cause more miscarriages than they would detect aneuploidy. For this reason, a number of noninvasive tests have been developed-including first-trimester risk assessment at 11 to 14 weeks, maternal serum analyte (quad) screening at 15 to 20 weeks, and sonographic fetal structural survey at 18 to 22 weeks-all of which are designed to give a woman an adjusted (more accurate) estimate of having an aneuploid fetus using as baseline her a priori age-related risk. Ultrasound and maternal serum analysis are considered screening procedures and both require follow up by CVS or amniocentesis in screen-positive cases for a definitive diagnosis of a chromosome abnormality in the fetus. The ability to isolate fetal cells and fetal DNA from maternal blood during pregnancy has opened up exciting opportunities for improved noninvasive prenatal testing (NIPT). Direct analysis of fetal cells from maternal circulation has been challenging given the scarcity of fetal cells in maternal blood (1:10,000-1:1,000,000) and the focus has shifted to the analysis of cell-free fetal DNA, which is found at a concentration almost 25 times higher than that

Radioimmunoassays in prenatal genetic diagnosis

International Nuclear Information System (INIS)

Santavy, J.; Janouskova, M.; Fingerova, H.; Krikal, Z.

1981-01-01

Prenatal medicine strives to reveal hereditary disorders and congenital malformations before delivery. The application of RIA significantly widened the spectrum of available diagnostic possibilities. We first focused our attention on determining alpha-1-fetoprotein in the amniotic fluid and the serum. We used the results of 33 examinations of the amniotic fluid and 100 samples of the blood serum to compile a graph of physiological values during pregnancy. The graph is used in assessing clinical samples in suspect congenital disorders of neural tube closure and other malformations. In the last two years we have tested testosterone determination in the amniotic fluid to ascertain prenatally the fetal sex in early pregnancy. The results were satisfactory and agreed in 70.6%. (author)

Non-invasive prenatal testing: a review of international implementation and challenges

Directory of Open Access Journals (Sweden)

Allyse M

2015-01-01

Full Text Available Megan Allyse,1 Mollie A Minear,2 Elisa Berson,3 Shilpa Sridhar,3 Margaret Rote,3 Anthony Hung,3 Subhashini Chandrasekharan4 1Institute for Health and Aging, University of California San Francisco, San Francisco, California, USA, 2Duke Science & Society, Duke University, Durham, NC, USA, 3Trinity College of Arts and Sciences, Duke University, Durham, NC, USA; 4Duke Global Health Institute, Duke University, Durham, NC, USA Abstract: Noninvasive prenatal genetic testing (NIPT is an advance in the detection of fetal chromosomal aneuploidies that analyzes cell-free fetal DNA in the blood of a pregnant woman. Since its introduction to clinical practice in Hong Kong in 2011, NIPT has quickly spread across the globe. While many professional societies currently recommend that NIPT be used as a screening method, not a diagnostic test, its high sensitivity (true positive rate and specificity (true negative rate make it an attractive alternative to the serum screens and invasive tests currently in use. Professional societies also recommend that NIPT be accompanied by genetic counseling so that families can make informed reproductive choices. If NIPT becomes more widely adopted, States will have to implement regulation and oversight to ensure it fits into existing legal frameworks, with particular attention to returning fetal sex information in areas where sex-based abortions are prevalent. Although there are additional challenges for NIPT uptake in the developing world, including the lack of health care professionals and infrastructure, the use of NIPT in low-resource settings could potentially reduce the need for skilled clinicians who perform invasive testing. Future advances in NIPT technology promise to expand the range of conditions that can be detected, including single gene disorders. With these advances come questions of how to handle incidental findings and variants of unknown significance. Moving forward, it is essential that all stakeholders have

Current maternal age recommendations for prenatal diagnosis: a reappraisal using the expected utility theory.

Science.gov (United States)

Sicherman, N; Bombard, A T; Rappoport, P

1995-01-01

The expected utility theory suggests eliminating an age-specific criterion for recommending prenatal diagnosis to patients. We isolate the factors which patients and physicians need to consider intelligently in prenatal diagnosis, and show that the sole use of a threshold age as a screening device is inadequate. Such a threshold fails to consider adequately patients' attitudes regarding many of the possible outcomes of prenatal diagnosis; in particular, the birth of a chromosomally abnormal child and procedural-related miscarriages. It also precludes testing younger women and encourages testing in patients who do not necessarily require or desire it. All pregnant women should be informed about their prenatal diagnosis options, screening techniques, and diagnostic procedures, including their respective limitations, risks, and benefits.

Noninvasive prenatal paternity testing (NIPAT) through maternal plasma DNA sequencing

DEFF Research Database (Denmark)

Jiang, Haojun; Xie, Yifan; Li, Xuchao

2016-01-01

developed a noninvasive prenatal paternity testing (NIPAT) based on SNP typing with maternal plasma DNA sequencing. We evaluated the influence factors (minor allele frequency (MAF), the number of total SNP, fetal fraction and effective sequencing depth) and designed three different selective SNP panels......Short tandem repeats (STRs) and single nucleotide polymorphisms (SNPs) have been already used to perform noninvasive prenatal paternity testing from maternal plasma DNA. The frequently used technologies were PCR followed by capillary electrophoresis and SNP typing array, respectively. Here, we...... paternity test using STR multiplex system. Our study here proved that the maternal plasma DNA sequencing-based technology is feasible and accurate in determining paternity, which may provide an alternative in forensic application in the future....

Prenatal diagnostics in TESA/PESA pregnancies in Denmark 1995-2007: a shift from invasive procedures to nuchal translucency examination

DEFF Research Database (Denmark)

Fedder, Jens; Erb, Karin; Humaidan, Peter

2011-01-01

Evidently, children born after intracytoplasmic sperm injection (ICSI) are at an increased risk of having sex chromosomal abnormalities. Here we evaluate the change in methods used for prenatal diagnostics in patients having ICSI with epididymal or testicular sperm from the introduction of the pr...

Decision aids that support decisions about prenatal testing for Down syndrome: an environmental scan.

Science.gov (United States)

Leiva Portocarrero, Maria Esther; Garvelink, Mirjam M; Becerra Perez, Maria Margarita; Giguère, Anik; Robitaille, Hubert; Wilson, Brenda J; Rousseau, François; Légaré, France

2015-09-24

Prenatal screening tests for Down syndrome (DS) are routine in many developed countries and new tests are rapidly becoming available. Decisions about prenatal screening are increasingly complex with each successive test, and pregnant women need information about risks and benefits as well as clarity about their values. Decision aids (DAs) can help healthcare providers support women in this decision. Using an environmental scan, we aimed to identify publicly available DAs focusing on prenatal screening/diagnosis for Down syndrome that provide effective support for decision making. Data sources searched were the Decision Aids Library Inventory (DALI) of the Ottawa Patient Decision Aids Research Group at the Ottawa Health Research Institute; Google searches on the internet; professional organizations, academic institutions and other experts in the field; and references in existing systematic reviews on DAs. Eligible DAs targeted pregnant women, focused on prenatal screening and/or diagnosis, applied to tests for fetal abnormalities or aneuploidies, and were in French, English, Spanish or Portuguese. Pairs of reviewers independently identified eligible DAs and extracted characteristics including the presence of practical decision support tools and features to aid comprehension. They then performed quality assessment using the 16 minimum standards established by the International Patient Decision Aids Standards (IPDASi v4.0). Of 543 potentially eligible DAs (512 in DALI, 27 from experts, and four on the internet), 23 were eligible and 20 were available for data extraction. DAs were developed from 1996 to 2013 in six countries (UK, USA, Canada, Australia, Sweden, and France). Five DAs were for prenatal screening, three for prenatal diagnosis and 12 for both). Eight contained values clarification methods (personal worksheets). The 20 DAs scored a median of 10/16 (range 6-15) on the 16 IPDAS minimum standards. None of the 20 included DAs met all 16 IPDAS minimum standards

Women’s Attitudes Regarding Prenatal Testing for a Range of Congenital Disorders of Varying Severity

Directory of Open Access Journals (Sweden)

Mary E. Norton

2014-01-01

Full Text Available Little is known about women’s comparative attitudes towards prenatal testing for different categories of genetic disorders. We interviewed women who delivered healthy infants within the past year and assessed attitudes towards prenatal screening and diagnostic testing, as well as pregnancy termination, for Down syndrome (DS, fragile X (FraX, cystic fibrosis (CF, spinal muscular atrophy (SMA, phenylketonuria (PKU and congenital heart defects (CHD. Ninety-five women aged 21 to 48 years participated, of whom 60% were Caucasian, 23% Asian, 10% Latina and 7% African American; 82% were college graduates. Ninety-five to ninety-eight percent indicated that they would have screening for each condition, and the majority would have amniocentesis (64% for PKU to 72% for SMA. Inclinations regarding pregnancy termination varied by condition: Whereas only 10% reported they would probably or definitely terminate a pregnancy for CHD, 41% indicated they would do so for DS and 62% for SMA. Most women in this cohort reported that they would undergo screening for all six conditions presented, the majority without the intent to terminate an affected pregnancy. These women were least inclined to terminate treatable disorders (PKU, CHD versus those associated with intellectual disability (DS, FraX and were most likely to terminate for SMA, typically lethal in childhood.

Reliable test for prenatal prediction of fetal RhD type using maternal plasma from RhD negative women

DEFF Research Database (Denmark)

Clausen, Frederik Banch; Krog, Grethe Risum; Rieneck, Klaus

2005-01-01

The objective of this study was to establish a reliable test for prenatal prediction of fetal RhD type using maternal plasma from RhD negative women. This test is needed for future prenatal Rh prophylaxis.......The objective of this study was to establish a reliable test for prenatal prediction of fetal RhD type using maternal plasma from RhD negative women. This test is needed for future prenatal Rh prophylaxis....

Beyond easy answers: prenatal diagnosis and counseling during pregnancy.

Science.gov (United States)

Strauss, Ronald P

2002-03-01

The advancing sophistication and availability of prenatal diagnostic technologies, such as transvaginal ultrasound, chorionic villus sampling, amniocentesis, and alpha feto-protein testing, have increased the medical capacity to detect genetic and congenital conditions during pregnancy. This paper raises many social and ethical questions about how families, craniofacial teams, and society respond when a prenatal diagnosis is made and considers the ethical and social issues around counseling, managing information, and making decisions. Ethical and sociological analysis. Implications examined on the societal, health professional, and family level. Families and health professionals often manage ambiguity, uncertainty, and complex decision making in facing a prenatal diagnosis. Embedded in parental and clinical decisions are values about children with birth defects. Families are making decisions about whether to bear or abort an affected fetus on the basis of their perceptions of the impairment and on their expectation of the burden involved for the family and the child. On a broader, societal level, pressures to conform and minimize human differences are apparent in biomedical interventions, the Human Genome Project, advertising and media images, and social pressures to normalize disabilities. How society deals with prenatal diagnosis will impact upon social values; moral, legal, and ethical perspectives; and on health policy. Prenatal diagnostic technologies raise complex ethical, family, policy, and legal issues that have broad implications for the lives of children born with special health care needs, including children with cleft lip and palate.

The value and role of non-invasive prenatal testing in a select South ...

African Journals Online (AJOL)

testing, which often leads to inaccuracies in interpretation of the role and value of cfDNA in prenatal screening.[9,10] As a result, several recommendations on the use of cfDNA for prenatal testing have been published.[9,11-13] Adequate data on NIPT only exist for high- risk populations, i.e. pregnant women with a risk of ...

[Introduction of rapid syphilis and HIV testing in prenatal care in Colombia: qualitative analysis].

Science.gov (United States)

Ochoa-Manjarrés, María Teresa; Gaitán-Duarte, Hernando Guillermo; Caicedo, Sidia; Gómez, Berta; Pérez, Freddy

2016-12-01

Interpret perceptions of Colombian health professionals concerning factors that obstruct and facilitate the introduction of rapid syphilis and HIV testing in prenatal care services. A qualitative study based on semi-structured interviews was carried out. A convenience sample was selected with 37 participants, who included health professionals involved in prenatal care services, programs for pregnant women, clinical laboratories, and directors of health care units or centers, as well as representatives from regional departments and the Ministry of Health. Colombia does not do widespread screening with rapid syphilis and HIV tests in prenatal care. The professionals interviewed stated they did not have prior experience in the use of rapid tests-except for laboratory staff-or in the course of action in response to a positive result. The insurance system hinders access to timely diagnosis and treatment. Health authorities perceive a need to review existing standards, strengthen the first level of care, and promote comprehensive prenatal care starting with contracts between insurers and health service institutional providers. Participants recommended staff training and integration between health-policymaking and academic entities for updating training programs. The market approach and the characteristics of the Colombian health system constitute the main barriers to implementation of rapid testing as a strategy for elimination of mother-to-child transmission of syphilis and HIV. Measures identified include making changes in contracts between insurers and health service institutional providers, adapting the timing and duration of prenatal care procedures, and training physicians and nurses involved in prenatal care.

New trend in non-invasive prenatal diagnosis.

Science.gov (United States)

Ferrari, M; Carrera, P; Lampasona, V; Galbiati, S

2015-12-07

The presence of fetal DNA in maternal plasma represents a source of genetic material which can be obtained non-invasively. To date, the translation of noninvasive prenatal diagnosis from research into clinical practice has been rather fragmented, and despite the advances in improving the analytical sensitivity of methods, distinguishing between fetal and maternal sequences remains very challenging. Thus, the field of noninvasive prenatal diagnosis of genetic diseases has yet to attain a routine application in clinical diagnostics. On the contrary, fetal sex determination in pregnancies at high risk of sex-linked disorders, tests for fetal RHD genotyping and non-invasive assessment of chromosomal aneuploidies are now available worldwide. Copyright © 2014 Elsevier B.V. All rights reserved.

Decision-making about prenatal genetic testing among pregnant Korean-American women.

Science.gov (United States)

Jun, Myunghee; Thongpriwan, Vipavee; Choi, Jeeyae; Sook Choi, Kyung; Anderson, Gwen

2018-01-01

to understand the prenatal genetic testing decision-making processes among pregnant Korean-American women. a qualitative, descriptive research design. referrals and snowball sampling techniques were used to recruit 10 Korean-American women who had been recommended for amniocentesis during pregnancy in the United States (U.S.). All participants were born in Korea and had immigrated to the U.S. The number of years living in the U.S. ranged from 4 to 11 (M=5.7). various regional areas of the U.S. the researchers conducted face-to-face or phone interviews using semi-structured interview guides. The interviews were conducted in the Korean language and lasted approximately 50-100minutes. The interview guides focused on the decision-making process and experiences with prenatal genetic testing, as well as reflections on the decisions. Four core themes emerged related to the participants' decision-making processes, according to their descriptions. These themes are (1) facing the challenges of decision-making, (2) seeking support, (3) determining one's preferred role in the decision-making process, and (4) feeling uncomfortable with the degree of patient autonomy in U.S. health care. researchers concluded that many distinctive factors influence the decision-making processes used by pregnant Korean-American women. The results have the potential to improve shared decision-making practices regarding prenatal genetic testing. clinicians need to understand the sociocultural underpinnings of pregnant Korean-American immigrants regarding prenatal genetic screening and testing as an initial step to engage these patients in shared decision-making. Published by Elsevier Ltd.

Prenatal nutrition, epigenetics and schizophrenia risk: can we test causal effects?

Science.gov (United States)

Kirkbride, James B; Susser, Ezra; Kundakovic, Marija; Kresovich, Jacob K; Davey Smith, George; Relton, Caroline L

2012-06-01

We posit that maternal prenatal nutrition can influence offspring schizophrenia risk via epigenetic effects. In this article, we consider evidence that prenatal nutrition is linked to epigenetic outcomes in offspring and schizophrenia in offspring, and that schizophrenia is associated with epigenetic changes. We focus upon one-carbon metabolism as a mediator of the pathway between perturbed prenatal nutrition and the subsequent risk of schizophrenia. Although post-mortem human studies demonstrate DNA methylation changes in brains of people with schizophrenia, such studies cannot establish causality. We suggest a testable hypothesis that utilizes a novel two-step Mendelian randomization approach, to test the component parts of the proposed causal pathway leading from prenatal nutritional exposure to schizophrenia. Applied here to a specific example, such an approach is applicable for wider use to strengthen causal inference of the mediating role of epigenetic factors linking exposures to health outcomes in population-based studies.

Attitudes Towards Prenatal Genetic Counseling, Prenatal Genetic Testing, and Termination of Pregnancy among Southeast and East Asian Women in the United States.

Science.gov (United States)

Tsai, Ginger J; Cameron, Carrie A; Czerwinski, Jennifer L; Mendez-Figueroa, Hector; Peterson, Susan K; Noblin, Sarah Jane

2017-10-01

Recognizing the heterogeneity of the Asian population with regards to acculturation, education, health awareness, and cultural values is vital for tailoring culturally sensitive and appropriate care. Prior studies show that cultural values influence perceptions of genetics within Asian populations. The reputation of the family unit factors into decisions such as pregnancy termination and disclosure of family medical history, and the nondirective model of American genetic counseling may conflict with the historical Asian model of paternalistic health care. Previous studies also provide conflicting evidence regarding correlations between education, acculturation, age, and awareness and perceptions of genetic testing. The aims of this study were to describe attitudes towards prenatal genetics among Southeast and East Asian women living in the United States for varying amounts of time and to explore sociocultural factors influencing those attitudes. Twenty-three Asian women who were members of Asian cultural organizations in the United States were interviewed via telephone about their attitudes towards prenatal genetic counseling, prenatal genetic testing, and termination of pregnancy. Responses were transcribed and coded for common themes using a thematic analysis approach. Four major themes emerged. In general, participants: (1) had diverse expectations for genetic counselors; (2) tended to weigh risks and benefits with regards to genetic testing decisions; (3) had mixed views on termination for lethal and non-lethal genetic conditions; and (4) identified cultural factors which influenced testing and termination such as lack of available resources, societal shame and stigma, and family pressure. These findings may allow prenatal genetic counselors to gain a richer, more nuanced understanding of their Asian patients and to offer culturally tailored prenatal genetic counseling.

Early prenatal syphilis

Directory of Open Access Journals (Sweden)

Santosh Rathod

2010-01-01

Full Text Available Syphilis in pregnancy still remains a challenge despite the availability of adequate diagnostic tests for serological screening and penicillin therapy. We report a case of 2 month old female infant who presented with runny nose, papulosquamous lesions over both palms and soles and perianal erosions since 1 month after birth. Cutaneous examination revealed moist eroded areas in the perianal region and fine scaly lesions over palms and soles. Radiograph of both upper limbs and limbs revealed early periosteal changes in lower end of humerus and lower end of tibia. Diagnosis of early pre-natal syphilis was confirmed by Child′s Serum Rapid Plasma Reagin Antibody test [S.RPR] being positive with 1:64 dilution while that of mother was 1:8.

Educational needs of nurses to provide genetic services in prenatal care: A cross-sectional study from Turkey.

Science.gov (United States)

Seven, Memnun; Eroglu, Kafiye; Akyüz, Aygül; Ingvoldstad, Charlotta

2017-09-01

The latest advances in genetics/genomics have significantly impacted prenatal screening and diagnostic tests. This cross-sectional descriptive study was conducted in inpatient and outpatient obstetric clinics in 24 hospitals in Turkey to determine knowledge of genetics related to prenatal care and the educational needs of perinatal nurses. A total of 116 nurses working in these clinics agreed to participate. The results included the level of knowledge among nurses was not affected by sociodemographic factors. Also, there is a lack of knowledge and interest in genetics among prenatal nurses and in clinical practice to provide education and counseling related to genetics in prenatal settings as a part of prenatal care. © 2017 John Wiley & Sons Australia, Ltd.

Recommendations for the use of microarrays in prenatal diagnosis.

Science.gov (United States)

Suela, Javier; López-Expósito, Isabel; Querejeta, María Eugenia; Martorell, Rosa; Cuatrecasas, Esther; Armengol, Lluis; Antolín, Eugenia; Domínguez Garrido, Elena; Trujillo-Tiebas, María José; Rosell, Jordi; García Planells, Javier; Cigudosa, Juan Cruz

2017-04-07

Microarray technology, recently implemented in international prenatal diagnosis systems, has become one of the main techniques in this field in terms of detection rate and objectivity of the results. This guideline attempts to provide background information on this technology, including technical and diagnostic aspects to be considered. Specifically, this guideline defines: the different prenatal sample types to be used, as well as their characteristics (chorionic villi samples, amniotic fluid, fetal cord blood or miscarriage tissue material); variant reporting policies (including variants of uncertain significance) to be considered in informed consents and prenatal microarray reports; microarray limitations inherent to the technique and which must be taken into account when recommending microarray testing for diagnosis; a detailed clinical algorithm recommending the use of microarray testing and its introduction into routine clinical practice within the context of other genetic tests, including pregnancies in families with a genetic history or specific syndrome suspicion, first trimester increased nuchal translucency or second trimester heart malformation and ultrasound findings not related to a known or specific syndrome. This guideline has been coordinated by the Spanish Association for Prenatal Diagnosis (AEDP, «Asociación Española de Diagnóstico Prenatal»), the Spanish Human Genetics Association (AEGH, «Asociación Española de Genética Humana») and the Spanish Society of Clinical Genetics and Dysmorphology (SEGCyD, «Sociedad Española de Genética Clínica y Dismorfología»). Copyright © 2017 Elsevier España, S.L.U. All rights reserved.

Fetal Cell Based Prenatal Diagnosis: Perspectives on the Present and Future

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Morris Fiddler

2014-09-01

Full Text Available The ability to capture and analyze fetal cells from maternal circulation or other sources during pregnancy has been a goal of prenatal diagnostics for over thirty years. The vision of replacing invasive prenatal diagnostic procedures with the prospect of having the entire fetal genome in hand non-invasively for chromosomal and molecular studies for both clinical and research use has brought many investigators and innovations into the effort. While the object of this desire, however, has remained elusive, the aspiration for this approach to non-invasive prenatal diagnosis remains and the inquiry has continued. With the advent of screening by cell-free DNA analysis, the standards for fetal cell based prenatal diagnostics have been sharpened. Relevant aspects of the history and the current status of investigations to meet the goal of having an accessible and reliable strategy for capturing and analyzing fetal cells during pregnancy are reviewed.

Non-invasive prenatal testing for sub-saharan Africa: Tailoring ...

African Journals Online (AJOL)

BACKGROUND Non-invasive prenatal testing (NIPT) for cell-free foetal (cff) RHD genotyping has clinical value to guide pregnancy management for alloimmunised RhD-negative pregnant women and guide antenatal anti-D prophylaxis needs for all D-negative women to prevent alloimmunisation. This assay assumes there ...

Do parental perceptions and motivations towards genetic testing and prenatal diagnosis for deafness vary in different cultures?

Science.gov (United States)

Nahar, Risha; Puri, Ratna D; Saxena, Renu; Verma, Ishwar C

2013-01-01

Surveys of attitudes of individuals with deafness and their families towards genetic testing or prenatal diagnosis have mostly been carried out in the West. It is expected that the perceptions and attitudes would vary amongst persons of different cultures and economic background. There is little information on the prevailing attitudes for genetic testing and prenatal diagnosis for deafness in developing countries. Therefore, this study evaluates the motivations of Indian people with inherited hearing loss towards such testing. Twenty-eight families with history of congenital hearing loss (23 hearing parents with child/family member with deafness, 4 couples with both partners having deafness and 1 parent and child with deafness) participated in a semi-structured survey investigating their interest, attitudes, and intentions for using genetic and prenatal testing for deafness. Participants opinioned that proper management and care of individuals with deafness were handicapped by limited rehabilitation facilities with significant financial and social burden. Nineteen (68%) opted for genetic testing. Twenty-six (93%) expressed high interest in prenatal diagnosis, while 19 (73%) would consider termination of an affected fetus. Three hearing couples, in whom the causative mutations were identified, opted for prenatal diagnosis. On testing, all the three fetuses were affected and the hearing parents elected to terminate the pregnancies. This study provides an insight into the contrasting perceptions towards hearing disability in India and its influence on the desirability of genetic testing and prenatal diagnosis. Copyright © 2012 Wiley Periodicals, Inc.

A case report of Fanconi anemia diagnosed by genetic testing followed by prenatal diagnosis.

Science.gov (United States)

Lee, Hwa Jeen; Park, Seungman; Kang, Hyoung Jin; Jun, Jong Kwan; Lee, Jung Ae; Lee, Dong Soon; Park, Sung Sup; Seong, Moon-Woo

2012-09-01

Fanconi anemia (FA) is a rare genetic disorder affecting multiple body systems. Genetic testing, including prenatal testing, is a prerequisite for the diagnosis of many clinical conditions. However, genetic testing is complicated for FA because there are often many genes that are associated with its development, and large deletions, duplications, or sequence variations are frequently found in some of these genes. This study describes successful genetic testing for molecular diagnosis, and subsequent prenatal diagnosis, of FA in a patient and his family in Korea. We analyzed all exons and flanking regions of the FANCA, FANCC, and FANCG genes for mutation identification and subsequent prenatal diagnosis. Multiplex ligation-dependent probe amplification analysis was performed to detect large deletions or duplications in the FANCA gene. Molecular analysis revealed two mutations in the FANCA gene: a frameshift mutation c.2546delC and a novel splice-site mutation c.3627-1G>A. The FANCA mutations were separately inherited from each parent, c.2546delC was derived from the father, whereas c.3627-1G>A originated from the mother. The amniotic fluid cells were c.3627-1G>A heterozygotes, suggesting that the fetus was unaffected. This is the first report of genetic testing that was successfully applied to molecular diagnosis of a patient and subsequent prenatal diagnosis of FA in a family in Korea.

42 CFR 410.32 - Diagnostic x-ray tests, diagnostic laboratory tests, and other diagnostic tests: Conditions.

Science.gov (United States)

2010-10-01

... Procedural Terminology published by the American Medical Association. (3) Levels of supervision. Except where... & MEDICAID SERVICES, DEPARTMENT OF HEALTH AND HUMAN SERVICES MEDICARE PROGRAM SUPPLEMENTARY MEDICAL INSURANCE (SMI) BENEFITS Medical and Other Health Services § 410.32 Diagnostic x-ray tests, diagnostic laboratory...

Prenatal testing for hemolytic disease of the newborn and fetal neonatal alloimmune thrombocytopenia - current status.

Science.gov (United States)

Avent, Neil D

2014-12-01

Incompatibility of red cell and platelet antigens can lead to maternal alloimmunization causing hemolytic disease of the fetus & newborn and fetal neonatal alloimmune thrombocytopenia respectively. As the molecular background of these polymorphisms emerged, prenatal testing using initially fetal DNA obtained from invasively obtained amniotic fluid or chorionic villus was implemented. This evolved into testing using maternal plasma as source of fetal DNA, and this is in routine use as a safe non-invasive diagnostic that has no risk to the fetus of alloimmunization or spontaneous miscarriage. These tests were initially applied to high risk pregnancies, but has been applied on a mass scale, to screen fetuses in D-negative pregnant populations as national screening programs. Fetal neonatal alloimmune thrombocytopenia management has had comparatively small take up in non-invasive testing for causative fetal platelet alleles (e.g., HPA-1A), but mass scale genotyping of mothers to identify at risk HPA-1b1b pregnancies and their treatment with prophylactic anti-HPA-1A is being considered in at least one country (Norway).

Expert Knowledge Influences Decision-Making for Couples Receiving Positive Prenatal Chromosomal Microarray Testing Results.

Science.gov (United States)

Rubel, M A; Werner-Lin, A; Barg, F K; Bernhardt, B A

2017-09-01

To assess how participants receiving abnormal prenatal genetic testing results seek information and understand the implications of results, 27 US female patients and 12 of their male partners receiving positive prenatal microarray testing results completed semi-structured phone interviews. These interviews documented participant experiences with chromosomal microarray testing, understanding of and emotional response to receiving results, factors affecting decision-making about testing and pregnancy termination, and psychosocial needs throughout the testing process. Interview data were analyzed using a modified grounded theory approach. In the absence of certainty about the implications of results, understanding of results is shaped by biomedical expert knowledge (BEK) and cultural expert knowledge (CEK). When there is a dearth of BEK, as in the case of receiving results of uncertain significance, participants rely on CEK, including religious/spiritual beliefs, "gut instinct," embodied knowledge, and social network informants. CEK is a powerful platform to guide understanding of prenatal genetic testing results. The utility of culturally situated expert knowledge during testing uncertainty emphasizes that decision-making occurs within discourses beyond the biomedical domain. These forms of "knowing" may be integrated into clinical consideration of efficacious patient assessment and counseling.

Toward healthy offspring: Some origins of prenatal testing in Spain

Directory of Open Access Journals (Sweden)

Santesmases, María Jesús

2008-06-01

Full Text Available This paper deals with prenatal diagnosis practices in Spain. For pursuing this aim it reviews both literature on the origins of these practices in foreign countries as well as some of the early publications by Spanish practitioners. Those publications appeared to be connected to previous genetic testing in children such as the case of Down syndrome. Socio-political norms and values of Franco’s regime together with clinicians’ interests on introducing new testing techniques resulted in the stabilization of these practices associated to a reconceptualisation of pregnancy. Although prenatal diagnosis techniques made the body of pregnant women invisible, women’s bodies remained at the core of the technicalisation of contemporary reproductive options.

Este trabajo reflexiona sobre las prácticas de diagnóstico prenatal en España. Con este fin se manejan tanto bibliografía sobre los orígenes de estas prácticas en otros países como datos encontrados en las primeras publicaciones al respecto de especialistas de nuestro país. Estas publicaciones se relacionan también con algunas previas sobre diagnóstico genético en la clínica en el caso del síndrome de Down. Se sugiere que las normas sociopolíticas propias de la dictadura de Franco se combinaron con la difusión de técnicas desarrolladas en el extranjero para estabilizar prácticas médicas asociadas a una reconceptualización del embarazo. Las técnicas de diagnóstico prenatal, pese a invisibilizar el cuerpo de las mujeres, mantienen a este en el centro de la tecnificación de las opciones reproductivas contemporáneas.

Value of prenatal MRI in early evaluation of fetal central nervous system anomalies

Energy Technology Data Exchange (ETDEWEB)

Kobayashi, Keiichi [Kugayama Hospital, Tokyo (Japan); Nakamura, Masanao; Hino, Ken [Kyorin Univ., Mitaka, Tokyo (Japan). School of Medicine] [and others

2002-08-01

Advances in technology and the need for accurate prenatal diagnoses have produced great improvements in fetal diagnosis by MRI. However, there are still many problems with diagnosis of central nervous system (CNS) anomalies using MRI (e.g., time of diagnosis, factors limiting diagnostic ability. Fifteen cases referred to our clinic from 1992 to 2001 and examined using intrauterine ultrasound, prenatal MRI and postnatal MRI were reviewed retrospectively. All clinical records and findings from prenatal MRI, postnatal MRI and ultrasound were reviewed. Prenatal MRI was found to be equal in diagnostic power to ultrasound and postnatal MRI in 10 of the 15 cases. In the remaining 5 fetuses, the findings of prenatal MRI were not the same to those of prenatal ultrasound and postnatal MRI. Our goal was to determine the value of prenatal MRI in diagnosis of fetal CNS anomalies, to ascertain how this information might be used for counseling, and to assess its impact on pregnancy management. Prenatal MRI provided useful information for support personnel (e.g., physicians, nurses, caseworkers, religious advisers). (author)

Effect of prenatal exposure to diagnostic radiation on childhood physical and intellectual development

International Nuclear Information System (INIS)

Hu Yumei; Yao Jiaxiang

1992-01-01

An epidemiological investigation has been conducted on 1026 prenatally X-ray irradiated children aged from four to seven years in Beijing, Shanghai and Changchun, and 1191 controls of the same age, sex, and birth hospitals. The absorbed doses to fetus range from 11.75 to 42.70 mGy. The results show that there is no significant difference between the two groups in body height, weight and head circumference, and the parameters in the exposed group are all above the normal mean values except for three subgroups who have their height within half a standard deviation below the normal. On intelligence test, the exposed group achieves a slightly lower mean score than that of the control (t = 2.21, P<0.05). But the difference of the distributions of test scores in both groups is not significant, and logistic analysis of confounding factors rules out a consequential role of prenatal radiation in inducing mental retardation. The possible causes of lower I.Q. in the exposed group and the relationship of gestational age to I.Q. are discussed

Comparing diagnostic classification of neurobehavioral disorder associated with prenatal alcohol exposure with the Canadian fetal alcohol spectrum disorder guidelines: a cohort study.

Science.gov (United States)

Sanders, James L; Breen, Rebecca E Hudson; Netelenbos, Nicole

2017-01-01

Diagnostic criteria have recently been introduced in the Diagnostic and Statistical Manual of Mental Disorders, 5th edition (DSM-5), for neurobehavioral disorder associated with prenatal alcohol exposure (ND-PAE). The purpose of this study is to assess the classification of this condition using the Canadian fetal alcohol spectrum disorder (FASD) multidisciplinary diagnostic guidelines as the standard of comparison. First, classification of ND-PAE was compared with Canadian FASD diagnoses of fetal alcohol syndrome (FAS), partial FAS and alcohol-related neurodevelopmental disorder. Second, classification of ND-PAE was compared with FAS and pFAS only, a criterion for which includes facial features highly predictive of prenatal alcohol exposure and effects. Eighty-two patients underwent multidisciplinary clinical evaluations using the Canadian FASD diagnostic guidelines between 2011 and 2015. Two clinicians independently reviewed patient files for evidence of diagnostic criteria for ND-PAE when applying an impairment cut-off level of 2 or more standard deviations below the mean, or clinically significant impairment in the absence of standardized norm-referenced measures. Good interrater reliability was established between clinicians (κ = 0.79). Classifications of ND-PAE and Canadian FASD diagnoses, including alcohol-related neurodevelopmental disorder, were moderately correlated (Cramer V [82] = 0.44, p 0.05). Although there is considerable overlap between both sets of criteria, ND-PAE was less likely to identify patients with FASD. Although the neurobehavioral domains assessed by ND-PAE are supported in research, its diagnostic structure restricts the identification of FASD at the impairment threshold of 2 or more standard deviations. A disconnect remains with regard to impairment thresholds between FASD, which relies on neurodevelopmental data, and ND-PAE, which relies on clinical judgment.

Survey of prenatal counselling practices regarding aneuploidy risk modification, invasive diagnostic procedure risks, and procedure eligibility criteria in Canadian centres.

Science.gov (United States)

Hull, Danna; Davies, Gregory; Armour, Christine M

2012-07-01

To explore prenatal practices related to aneuploidy screening, risk modification, and invasive diagnostic procedures across Canadian centres. We conducted a survey of members of the Canadian Association of Genetic Counsellors, the Canadian College of Medical Genetics, and the Canadian Society of Maternal Fetal Medicine, who provide direct counselling or management of prenatal patients in Canada. Eighty-two of 157 respondents indicated that their centre's definition of advanced maternal age was ≥ 35 years, with 33/157 respondents reporting an advanced maternal age definition of ≥ 40 years. The majority of respondents reported that prenatal serum screening for aneuploidy is provincially funded in their province or territory (121/147). The majority of respondents who reported that prenatal screening is not provincially funded (17/147) were from Quebec (14/17). Thirty-nine of 123 respondents reported that their centre defines increased nuchal translucency as ≥ 3.0 mm, whereas 49/123 reported a definition of ≥ 3.5 mm. Sixty-four of 150 respondents reported that the aneuploidy risk provided by serum screening is modified by a soft marker likelihood ratio, whereas 46/150 respondents reported that both age-related and serum screening risks are modified. Fifty-nine of 124 respondents reported that their centre will modify aneuploidy risk after a normal ultrasound; the most commonly cited negative likelihood ratio was 0.5. The most commonly reported procedure-related risk for chorionic villus sampling was 1/100 (123/147) and for amniocentesis was 1/200 (73/142). This study demonstrates inconsistencies in prenatal practices and access to screening programs across Canada. The information gained from this study will inform policy advisors developing prenatal practice guidelines at both the provincial and national levels.

Communication with patients during the prenatal testing procedure: an explorative qualitative study

NARCIS (Netherlands)

van Zwieten, Myra; Willems, Dick; Knegt, Lia; Leschot, Nico

2006-01-01

OBJECTIVE: While generally two phases of prenatal genetic counseling are distinguished, i.e. pre- and post-test counseling, we revealed a third form of communication during the testing procedure. The content of this intermediate communication was explored. METHODS: A secondary analysis was performed

The Legal Past, Present and Future of Prenatal Genetic Testing: Professional Liability and Other Legal Challenges Affecting Patient Access to Services

Directory of Open Access Journals (Sweden)

Deborah Pergament

2014-12-01

Full Text Available This chapter is an overview of the current status of the law in the United States regarding prenatal genetic testing with an emphasis on issues related to professional liability and other challenges affecting patient access to prenatal genetic testing. The chapter discusses the roles that federal regulations, promulgated by the Centers for Medicare and Medicaid Services (CMS, the Food and Drug Administration (FDA and the Federal Trade Commission (FTC, play in the regulation of prenatal genetic tests. The chapter discusses tort litigation based on allegations of malpractice in the provision of prenatal genetic testing and how courts have analyzed issues related to causation, damages and mitigation of damages. The chapter provides reference information regarding how individual states address causes of action under the tort theories of wrongful birth and wrongful life. The chapter concludes with a discussion of future legal issues that may affect clinical prenatal genetic testing services arising from the continued expansion of prenatal genetic testing, legal restrictions on access to abortion and the potential development of embryonic treatments.

[Prenatal control related to the number of consultations as hyperglycemia diagnostic method].

Science.gov (United States)

Hernández-Valencia, Marcelino; Carrillo Pacheco, Adia

2002-12-01

The impaired in the metabolism of the carbohydrates in a previously healthy woman who develops hyperglycemia during the pregnancy is know as gestational diabetes, the maternal-fetal mortality and morbility is almost the same one that a pregnant normal woman, if the metabolic dysfunction is appropriately controlled, the complications can be treated with success if the pregnant one attends prenatal control. The aim of this study was to know the relationship between number of consultations and the hyperglycemia frequency to settle down. 304 pregnant patients were studied that who request childbirth attention at emergency room of the gynecology and obstetrics service were studied; two groups were formed. The first group, 176 patients with term pregnancy in inadequate control with four or less prenatal consultations. The second group, 128 patients with five or more prenatal consultations. All had a fast of at least 4 hours, to take them a sample of blood and to determine the glucose during their entrance with initial childbirth labor. There was difference in the number of consultations that received each group with 1.4 +/- 1.0 consultations for the irregular group and 6.5 +/- 1.1 for the group with regular control. The pregnant ones with no prenatal consultation presented the biggest hyperglycemia percentage, but this percentage diminished as the pregnant ones attended to a bigger number of consultations, since they were detected the dysfunction of glucose on time and they could be treated appropriately. The glycemia was normal in all the patients that had more than 6 prenatal consultations because hyperglycemia was detected in 55 (31.2%) patients of the group with irregular prenatal control, in comparison with 4 (3.1%) of those with appropriate control (p control with a smaller number of prenatal consultations, they have the biggest hyperglycemia percentage, because it was not possible to detect this dysfunction in an opportune way, this situation demonstrates the

Cross-cultural perspectives on decision making regarding noninvasive prenatal testing: A comparative study of Lebanon and Quebec.

Science.gov (United States)

Haidar, Hazar; Vanstone, Meredith; Laberge, Anne-Marie; Bibeau, Gilles; Ghulmiyyah, Labib; Ravitsky, Vardit

2018-01-01

Noninvasive prenatal testing (NIPT), based on the detection of cell-free fetal DNA in maternal blood, has transformed the landscape of prenatal care by offering clinical benefits (noninvasive, high specificity and sensitivity, early detection of abnormalities) compared to existing prenatal screening tests. NIPT has expanded rapidly and is currently commercially available in most of the world. As NIPT spreads globally, culturally sensitive and ethically sound implementation will require policies that take into consideration the social and cultural context of prenatal testing decisions. In a Western context, the main ethical argument for providing access and public funding of prenatal tests is the promotion of reproductive autonomy (also referred to as "procreative liberty" and "reproductive freedom"), by enabling pregnant women and couples to access information about the fetus in order to choose a certain course of action for pregnancy management (continuation of pregnancy and preparation for birth or termination). So how is the framework of reproductive autonomy operationalized in non-Western cultural contexts? We used Quebec, Canada, and Beirut, Lebanon, for case studies to explore what ethical considerations related to reproductive autonomy should guide the implementation of the test in various cultural contexts. To answer this question, we conducted a qualitative study to (1) explore the perceptions, values, and preferences of pregnant women and their partners about NIPT and (2) examine how these values and perceptions influence reproductive autonomy and decision making in relation to NIPT in these two different cultural settings, Lebanon and Quebec. Our findings may guide health care professionals in providing counseling and in helping women and their partners make better informed prenatal testing decisions. Further, at a policy level, such understanding might inform the development of local guidelines and policies that are appropriate to each context.

Should we offer prenatal testing for 17q12 microdeletion syndrome to all cases with prenatally diagnosed echogenic kidneys? Prenatal findings in two families with 17q12 microdeletion syndrome and review of the literature.

Science.gov (United States)

Jones, Gabriela E; Mousa, Hatem A; Rowley, Helen; Houtman, Peter; Vasudevan, Pradeep C

2015-12-01

The objective of this study is to report the prenatal ultrasound scan findings in four fetuses from two families postnatally diagnosed with 17q12 microdeletion syndrome on microarray CGH and review the literature. We report two families presenting with prenatally detected hyperechogenic kidneys. In family 1, the mother had three pregnancies complicated by anhydramnios with bilateral hyperechogenic kidneys, hyperechogenic enlarged cystic kidneys, and bilateral hyperechogenic kidneys with polyhydramnios respectively. In family 2, prenatal ultrasound scans detected hyperechogenic kidneys. A pubmed search for all reported cases of 17q12 deletion between 2005 and 2015 was performed. All publications were reviewed, and findings summarised. Fourteen publications were deemed suitable for literature review; there was a diagnosis of 17q12 deletion with documented prenatal findings in 25 cases. Prenatal renal anomalies were reported in 88% of these cases. Anomalies were documented from 15 weeks, and most common presentation was hyperechogenic, muticystic, or enlarged kidneys. Both oligohydramnios and polyhydramnios were seen. Postnatal renal ultrasound scan findings were of muticystic or multicystic dysplastic kidney. There did not appear to be correlation of prenatal presentation and severity of renal disease. Prenatal testing should be offered to all cases of hyperechogenic kidneys, with unknown cause. © 2015 John Wiley & Sons, Ltd.

Prenatal screening and genetics

DEFF Research Database (Denmark)

Alderson, P; Aro, A R; Dragonas, T

2001-01-01

Although the term 'genetic screening' has been used for decades, this paper discusses how, in its most precise meaning, genetic screening has not yet been widely introduced. 'Prenatal screening' is often confused with 'genetic screening'. As we show, these terms have different meanings, and we...... examine definitions of the relevant concepts in order to illustrate this point. The concepts are i) prenatal, ii) genetic screening, iii) screening, scanning and testing, iv) maternal and foetal tests, v) test techniques and vi) genetic conditions. So far, prenatal screening has little connection...... with precisely defined genetics. There are benefits but also disadvantages in overstating current links between them in the term genetic screening. Policy making and professional and public understandings about screening could be clarified if the distinct meanings of prenatal screening and genetic screening were...

A Prenatal Case Report with Patau Syndrome

Directory of Open Access Journals (Sweden)

Mahmut Balkan

2008-01-01

Full Text Available In recent years, prenatal diagnosis and elective pregnancy termination have affected the reported birth prevalence of trisomies. Trisomy 13, or Patau syndrome, represents the third autosomic trisomy in order of frequency, after trisomy 21 (Down syndrome and trisomy 18 (Edwards syndrome, with a prevalence at birth estimated as between 1:12000 and 1:29000. In this study, we are presenting the results of cytogenetic analysis and clinic assessment in fetus of a woman at 22 weeks gestation, who were referred to our genetic diagnostic laboratory with abnormal triple test result, omphalosel and hydrocephaly. We performed the cordocentesis and pedigree analysis. We found a karyotype (47,XY,+13 in fetus. Because individuals of the family didn’t want, we were not followed the pregnancy prognosis for the mother and the fetus. We were recommending to the prenatal diagnosis for their further pregnancies.

"Everything you need to know": how women's magazines structure prenatal diagnosis for women over 35.

NARCIS (Netherlands)

Beaulieu, A; Lippman, A

1995-01-01

The use of biomedical testing and genetic counselling is usually framed as something an individual woman chooses, with little consideration given to the context in which women make these choices. In order to understand something of the context in which women (35 and over) undergo prenatal diagnostic

Non-invasive prenatal testing: a review of international implementation and challenges

Science.gov (United States)

Allyse, Megan; Minear, Mollie A; Berson, Elisa; Sridhar, Shilpa; Rote, Margaret; Hung, Anthony; Chandrasekharan, Subhashini

2015-01-01

Noninvasive prenatal genetic testing (NIPT) is an advance in the detection of fetal chromosomal aneuploidies that analyzes cell-free fetal DNA in the blood of a pregnant woman. Since its introduction to clinical practice in Hong Kong in 2011, NIPT has quickly spread across the globe. While many professional societies currently recommend that NIPT be used as a screening method, not a diagnostic test, its high sensitivity (true positive rate) and specificity (true negative rate) make it an attractive alternative to the serum screens and invasive tests currently in use. Professional societies also recommend that NIPT be accompanied by genetic counseling so that families can make informed reproductive choices. If NIPT becomes more widely adopted, States will have to implement regulation and oversight to ensure it fits into existing legal frameworks, with particular attention to returning fetal sex information in areas where sex-based abortions are prevalent. Although there are additional challenges for NIPT uptake in the developing world, including the lack of health care professionals and infrastructure, the use of NIPT in low-resource settings could potentially reduce the need for skilled clinicians who perform invasive testing. Future advances in NIPT technology promise to expand the range of conditions that can be detected, including single gene disorders. With these advances come questions of how to handle incidental findings and variants of unknown significance. Moving forward, it is essential that all stakeholders have a voice in crafting policies to ensure the ethical and equitable use of NIPT across the world. PMID:25653560

Beyond Diagnostic Accuracy: The Clinical Utility of Diagnostic Tests

NARCIS (Netherlands)

Bossuyt, Patrick M. M.; Reitsma, Johannes B.; Linnet, Kristian; Moons, Karel G. M.

2012-01-01

Like any other medical technology or intervention, diagnostic tests should be thoroughly evaluated before their introduction into daily practice. Increasingly, decision makers, physicians, and other users of diagnostic tests request more than simple measures of a test's analytical or technical

Parental duties and prenatal screening: does an offer of prenatal screening lead women to believe that they are morally compelled to test?

Science.gov (United States)

García, Elisa; Timmermans, Danielle R M; van Leeuwen, Evert

2012-12-01

in debates around prenatal screening, it is frequently argued that responsible parenthood implies the acquisition of all available medical information about the health of a fetus, and use of this information to benefit the future child. to analyse whether an offer of a prenatal test leads women to believe that they are morally obliged to control the health of their fetus. a substudy within a randomised controlled trial (RCT) aimed to assess the decision-making process of women when confronted with an offer of a prenatal screening test. 111 women participating in an RCT were retrospectively asked their views on the meaning of testing within their parental duties. testing was described as a personal option that goes beyond the normal parental responsibilities. Participants did not believe that they ought to control the health of the fetus or to avoid disability. A duty to test was only reported when the birth of a disabled child would have a negative impact on family life. women's accounts suggest that two main factors are involved in making testing morally obligatory: (1) the woman's views on her moral duties to her family; and (2) the expected burden of a disabled child on the well-being of the family. A family-centred approach would be more suitable to assess the moral imperative character of testing than women's ethical views about their moral duties towards their unborn child. a test offer should not be limited to communication of the characteristics of screening and the meaning of the test results. In helping women to assess the meaning of testing within their parental duties, counselling should include the family situation in which women have to decide, the women's expectations about living with a child with Down's syndrome or any other disability, and the women's views on their commitments towards their family. Copyright © 2011 Elsevier Ltd. All rights reserved.

Authoritative knowledge, the technological imperative and women's responses to prenatal diagnostic technologies.

Science.gov (United States)

McCoyd, Judith L M

2010-12-01

Theories about authoritative knowledge (AK) and the technological imperative have received varying levels of interest in anthropological, feminist and science and technology studies. Although the anthropological literature abounds with empirical considerations of authoritative knowledge, few have considered both theories through an empirical, inductive lens. Data extracted from an earlier study of 30 women's responses to termination for fetal anomaly are reanalyzed to consider the women's views of, and responses to, prenatal diagnostic technologies (PNDTs). Findings indicate that a small minority embrace the societal portrayal of technology as univalently positive, while the majority have nuanced and ambivalent responses to the use of PNDTs. Further, the interface of authoritative knowledge and the technological imperative suggests that AK derives not only from medical provider status and technology use, but also from the adequacy and trustworthiness of the information. The issue of timing and uncertainty of the information also are interrogated for their impact on women's lives and what that can illuminate about the theories of AK and the technological imperative.

Comparing diagnostic tests on benefit-risk.

Science.gov (United States)

Pennello, Gene; Pantoja-Galicia, Norberto; Evans, Scott

2016-01-01

Comparing diagnostic tests on accuracy alone can be inconclusive. For example, a test may have better sensitivity than another test yet worse specificity. Comparing tests on benefit risk may be more conclusive because clinical consequences of diagnostic error are considered. For benefit-risk evaluation, we propose diagnostic yield, the expected distribution of subjects with true positive, false positive, true negative, and false negative test results in a hypothetical population. We construct a table of diagnostic yield that includes the number of false positive subjects experiencing adverse consequences from unnecessary work-up. We then develop a decision theory for evaluating tests. The theory provides additional interpretation to quantities in the diagnostic yield table. It also indicates that the expected utility of a test relative to a perfect test is a weighted accuracy measure, the average of sensitivity and specificity weighted for prevalence and relative importance of false positive and false negative testing errors, also interpretable as the cost-benefit ratio of treating non-diseased and diseased subjects. We propose plots of diagnostic yield, weighted accuracy, and relative net benefit of tests as functions of prevalence or cost-benefit ratio. Concepts are illustrated with hypothetical screening tests for colorectal cancer with test positive subjects being referred to colonoscopy.

How to appraise a diagnostic test

Directory of Open Access Journals (Sweden)

Ramanitharan Manikandan

2011-01-01

Full Text Available Urologists frequently encounter problems in making a clinical diagnosis whose resolution requires the use of diagnostic tests. With an ever increasing choice of investigations being available, the urologist often has to decide which diagnostic test(s will best resolve the patient′s diagnostic problem. In this article, we aim to help the urologist understand how to critically appraise studies on diagnostic tests and make a rational choice. This article presents the guiding principles in scientifically assessing studies on diagnostic tests by proposing a clinical scenario. The authors describe a standardized protocol to assess the validity of the test and its relevance to the clinical problem that can help the urologist in decision making. The three important issues to be considered when evaluating the validity of the study are to identify how the study population was chosen, how the test was performed and whether there is a comparison to the gold standard test so as to confirm or refute the diagnosis. Then, the urologist would need to know the probability of the test in providing the correct diagnosis in an individual patient in order to decide about its utility in solving the diagnostic dilemma. By performing the steps described in this article, the urologist would be able to critically appraise diagnostic studies and draw meaningful conclusions about the investigations in terms of validity, results and its applicability to the patient′s problem. This would provide a scientific basis for using diagnostic tests for improving patient care.

A Qualitative Study to Explore the Views and Attitudes towards Prenatal Testing in Adults Who Have Muenke Syndrome and their Partners.

Science.gov (United States)

Phipps, Julie; Skirton, Heather

2017-10-01

Muenke syndrome constitutes the most common syndromic form of craniosynostosis, occurring in 1 in 30,000 live births. The phenotype is variable, ranging from no clinical findings to complex presentation. Facilitating reproductive decision making for couples at genetic risk of having a child with Muenke syndrome is an important aspect of genetic counselling. Prenatal genetic testing for Muenke syndrome is accurate; however the value of testing is uncertain with a variable phenotype. The purpose of this study was to explore attitudes towards prenatal testing in couples where one partner had tested positive for the Muenke mutation. We used a qualitative approach based on thematic analysis and collected data using individual semi-structured interviews with eight parents. Five key themes were: The Muenke journey; Impact and knowledge of diagnosis; Knowledge and attitude to prenatal testing; Stigma and sharing of information; and Information retention. Knowledge of Muenke syndrome and prenatal testing was poor. Genetic information was provided when treatment of their affected child was their paramount concern. Couples reported not sharing genetic information with family due to fear of stigmatisation. Couples cannot make reproductive decisions if lacking appropriate understanding of the choices: timely genetic counselling regarding prenatal testing is needed when relevant to them.

Barriers and facilitators for men to attend prenatal care and obtain HIV voluntary counseling and testing in Brazil.

Science.gov (United States)

Yeganeh, Nava; Simon, Mariana; Mindry, Deborah; Nielsen-Saines, Karin; Chaves, Maria Cristina; Santos, Breno; Melo, Marineide; Mendoza, Brenna; Gorbach, Pamina

2017-01-01

Providing HIV voluntary counseling and testing (VCT) to men who attend their partner's prenatal care is an intervention with potential to reduce HIV transmission to women and infants during the vulnerable period of pregnancy. Little is known about the acceptability of this intervention in global settings outside of Africa. We conducted in-depth qualitative interviews to evaluate potential barriers and facilitators to prenatal care attendance for HIV VCT with 20 men who did and 15 men who did not attend prenatal care with their partners at Hospital Conceiçao in Porto Alegre, Brazil. Men were recruited at the labor and delivery unit at Hospital Conceiçao via a scripted invitation while visiting their newborn infant. Interviews lasted from 35-55 minutes and were conducted in Portuguese by a local resident trained extensively in qualitative methods. All interviews were transcribed verbatim, translated, and then analyzed using Atlast.ti software. An analysis of themes was then conducted using direct quotes and statements. We applied and adapted the AIDS Risk Reduction Theoretical Model and HIV Testing Decisions Model to the qualitative data to identify themes in the 35 interviews. If offered HIV testing during prenatal care, all men in both groups stated they would accept this intervention. Yet, individual, relationship and systemic factors were identified that affect these Brazilian men's decision to attend prenatal care, informing our final conceptual model. The men interviewed had a general understanding of the value of HIV prevention of mother to child transmission. They also described open and communicative relationships with their significant others and displayed a high level of enthusiasm towards optimizing the health of their expanding family. The major barriers to attending prenatal care included perceived stigma against HIV infected individuals, men's lack of involvement in planning of the pregnancy as well as inconvenient scheduling of prenatal care, due to

Barriers and facilitators for men to attend prenatal care and obtain HIV voluntary counseling and testing in Brazil.

Directory of Open Access Journals (Sweden)

Nava Yeganeh

Full Text Available Providing HIV voluntary counseling and testing (VCT to men who attend their partner's prenatal care is an intervention with potential to reduce HIV transmission to women and infants during the vulnerable period of pregnancy. Little is known about the acceptability of this intervention in global settings outside of Africa.We conducted in-depth qualitative interviews to evaluate potential barriers and facilitators to prenatal care attendance for HIV VCT with 20 men who did and 15 men who did not attend prenatal care with their partners at Hospital Conceiçao in Porto Alegre, Brazil. Men were recruited at the labor and delivery unit at Hospital Conceiçao via a scripted invitation while visiting their newborn infant. Interviews lasted from 35-55 minutes and were conducted in Portuguese by a local resident trained extensively in qualitative methods. All interviews were transcribed verbatim, translated, and then analyzed using Atlast.ti software. An analysis of themes was then conducted using direct quotes and statements. We applied and adapted the AIDS Risk Reduction Theoretical Model and HIV Testing Decisions Model to the qualitative data to identify themes in the 35 interviews.If offered HIV testing during prenatal care, all men in both groups stated they would accept this intervention. Yet, individual, relationship and systemic factors were identified that affect these Brazilian men's decision to attend prenatal care, informing our final conceptual model. The men interviewed had a general understanding of the value of HIV prevention of mother to child transmission. They also described open and communicative relationships with their significant others and displayed a high level of enthusiasm towards optimizing the health of their expanding family. The major barriers to attending prenatal care included perceived stigma against HIV infected individuals, men's lack of involvement in planning of the pregnancy as well as inconvenient scheduling of

Human prenatal diagnosis

International Nuclear Information System (INIS)

Filkins, K.; Russo, R.J.

1985-01-01

The multiauthor text is written as a ''guide to rationalize and clarify certain aspects of diagnosis, general counseling and intervention'' for ''health professionals who provide care to pregnant women.'' The text is not aimed at the ultrasonographer but rather at the physicians who are clinically responsible for patient management. Chapters of relevance to radiologists include an overview of prenatal screening and counseling, diagnosis of neural tube defects, ultrasonographic (US) scanning of fetal disorders in the first and second trimesters of pregnancy, US scanning in the third trimester, multiple gestation and selective termination, fetal echo and Doppler studies, and fetal therapy. Also included are overviews of virtually all currently utilized prenatal diagnostic techniques including amniocentesis, fetal blood sampling, fetoscopy, recombinant DNA detection of hemoglobinopathies, chorionic villus sampling, embryoscopy, legal issues, and diagnosis of Mendelian disorders by DNA analysis

Noninvasive prenatal testing in routine clinical practice--an audit of NIPT and combined first-trimester screening in an unselected Australian population.

Science.gov (United States)

McLennan, Andrew; Palma-Dias, Ricardo; da Silva Costa, Fabricio; Meagher, Simon; Nisbet, Debbie L; Scott, Fergus

2016-02-01

There are limited data regarding noninvasive prenatal testing (NIPT) in low-risk populations, and the ideal aneuploidy screening model for a pregnant population has yet to be established. To assess the implementation of NIPT into clinical practice utilising both first- and second-line screening models. Three private practices specialising in obstetric ultrasound and prenatal diagnosis in Australia offered NIPT as a first-line test, ideally followed by combined first-trimester screening (cFTS), or as a second-line test following cFTS, particularly in those with a calculated risk between 1:50 and 1:1000. NIPT screening was performed in 5267 women and as a first-line screening method in 3359 (63.8%). Trisomies 21 and 13 detection was 100% and 88% for trisomy 18. Of cases with known karyotypes, the positive predictive value (PPV) of the test was highest for trisomy 21 (97.7%) and lowest for monosomy X (25%). Ultrasound detection of fetal structural abnormality resulted in the detection of five additional chromosome abnormalities, two of which had high-risk cFTS results. For all chromosomal abnormalities, NIPT alone detected 93.4%, a contingent model detected 81.8% (P = 0.097), and cFTS alone detected 65.9% (P < 0.005). NIPT achieved 100% T21 detection and had a higher DR of all aneuploidy when used as a first-line test. Given the false-positive rate for all aneuploidies, NIPT is an advanced screening test, rather than a diagnostic test. The benefit of additional cFTS was the detection of fetal structural abnormalities and some unusual chromosomal abnormalities. © 2016 The Royal Australian and New Zealand College of Obstetricians and Gynaecologists.

Prenatal diagnostics of congenital malformations, the most efficient way to decrease genetic consequences of Chernobyl accident; Perinatal'naya diagnostika vrozhdennykh porokov razvitiya - naibolee ehffektivnyj metod minimizatsii geneticheskikh posledstvij Chernobyl'skoj katastrofy

Energy Technology Data Exchange (ETDEWEB)

Lazjuk, G I; Zatsepin, I O; Kravchuk, Zn P; Khmel, R D

2003-04-01

Long-term study of the prevalence of congenital malformations (CM) in the population of Belarus, carried out by Belarus Institute for Hereditary Diseases, showed considerably increased, from 5.6% in 1980-1985 to 7.2% in 1986-1996, frequency of the anomalies found in embryos, increased number of malformations in induced abortuses and also the growth of CM in newborns, from 5 in 1983-1985 to 7.2 in 2001, in post-Chernobyl period. The highest raise was registered in the mostly contaminated with Cs-137 areas in the first post-Chernobyl years. There are various reasons for the observed increase, but they are still not clearly understood. Nutrition imbalance (deficit of vitamins, essential amino acids and soluble selenium), physoemotional stress, hormone imbalance, alcoholism and increased level of mutations due to additional exposure of the gonads of the residents of contaminated areas of the Republic can have some impact. Positive prevalence trend of multifactorial anomalies evidences multifactorial origin of the increased prevalence of embryonal anomalies. Both, increased prevalence of CM with great contribution of dominant mutations and the peak of Down's syndrome cases, recorded in January, 1987 with maximum in Gomel region, suggest mutation component. At present, the most efficient measures to prevent the birth of malformed children are prenatal diagnostics and vitamin supplement of the couples, who plan their pregnancy, and pregnant women in the first trimester. According to the conclusion, made by WHO experts, vitamin intake can considerably reduce many CM with multifactorial origin. Positive results can be achieved only if the problem is solved by the government, when vitamins are added to flour, cereals and bread. Prenatal diagnostics with subsequent termination of pregnancy, where incurable anomalies are found, contributes greatly to the reduction of the proportion of malformed newborns, irrespective of the factors, which caused the anomalies. Thus, in Belarus

Follow-up studies in prenatal medicine

NARCIS (Netherlands)

Nagel, Hélène Theodora Catharina

2007-01-01

With the availability of prenatal diagnostics in the last century, the fetus became a patient. Obstetricians looked togheter with neonatologist and pediatric surgeons, who in the past needed to treat sick neonates, for an earlier moment of treatment. An example of such a shift towards an earlier

Prenatal diagnostic evaluation of fetal ventricular dilatation by MRI

International Nuclear Information System (INIS)

Kawabata, Ichiro; Tamaya, Teruhiko; Iwata, Tatsuo; Ando, Takashi; Yamada, Hiromu

1992-01-01

Recent advances in MRI have contributed to the antenatal confirmatory diagnosis of fetal anomalies, especially in the fetal brain and central nervous system. In this study, eight infants with fetal ventricular dilatation, suggested by prenatal ultrasonography, were evaluated with confirmatory diagnosis by MRI (SIGNA; General Electric Company, 1.5 tesla). These anomalies were demonstrated at 19 to 36 weeks by ultrasonography. One of the eight died in utero at 22 weeks of gestation, another one day after birth (33 weeks of gestation). Two were delivered by Cesarean section. It has been proved that clear and effective images can be obtained by mother's walking without sedative drugs. Fetal MRI gave clear images not only in fetal horizontal section, but also in sagittal section, which is usually difficult to obtain by ultrasonography. Confirmatory diagnosis of eight cases were obtained by MRI. Fetal MRI can provide an effective prenatal diagnosis, especially in cases of fetal brain anomaly, even when compared with postnatal CT findings. (author)

Localizing NIPT: Practices and meanings of non-invasive prenatal testing in China, Italy, Brazil and the UK

OpenAIRE

Zeng, Xiaofan; Zannoni, Letizia; Löwy, Ilana; Camporesi, Silvia

2016-01-01

This paper is the result of a collaborative work between researchers based in UK, Italy, China and Brazil, and aims at providing a comprehensive review of practices and meanings of Non-Invasive Prenatal Testing (NIPT) in these countries, while also highlighting the ethical implications that NIPT poses. In the first part of this paper we describe how the technology is being integrated into the ‘moral economy’ of prenatal testing in the different countries we analysed. In the second section of ...

Prenatal radiation doses from radiopharmaceuticals

International Nuclear Information System (INIS)

Rojo, A.M.; Gomez Parada, I.M.; Di Trano, J.L.

1998-01-01

The radiopharmaceutical administration with diagnostic or therapeutic purpose during pregnancy implies a prenatal radiation dose. The dose assessment and the evaluation of the radiological risks become relevant due to the great radiosensitivity of the fetal tissues in development. This paper is a revision of the available data for estimating fetal doses in the cases of the more frequently used radiopharmaceuticals in nuclear medicine, taking into account recent investigation in placental crossover. The more frequent diagnostic and therapeutic procedures were analyzed according to the radiation doses implied. (author) [es

Knowledge and Attitudes Regarding Non-Invasive Prenatal Testing (NIPT) and Preferences for Risk Information among High School Students in Sweden.

Science.gov (United States)

Georgsson, Susanne; Sahlin, Ellika; Iwarsson, Moa; Nordenskjöld, Magnus; Gustavsson, Peter; Iwarsson, Erik

2017-06-01

Non-invasive prenatal testing (NIPT) was recently introduced for prenatal testing of genetic disorders. Cell-free fetal DNA is present in maternal blood during pregnancy and enables detection of fetal chromosome aberrations in a maternal blood sample. The public perspective to this new, simple method has not been illuminated. The views of young people (i.e. future parents) are important to develop suitable counseling strategies regarding prenatal testing. The aim was to explore Swedish high school students' attitudes, knowledge and preferences regarding NIPT. A questionnaire was completed by 305 students recruited from one high school in Stockholm, November and December 2014. Most students (80 %) considered prenatal testing as good. The majority (65 %) was positive or very positive towards NIPT and 62 % stated that they potentially would like to undergo the test if they or their partner was pregnant. The vast majority (94 %) requested further information about NIPT. Most students (61 %) preferred verbal information, whereas 20 % preferred information via the Internet. The majority of the high school students was positive towards prenatal testing and most was positive towards NIPT. Further, information was requested by the vast majority before making a decision about NIPT. Most of the students preferred verbal information and to a lesser extent information via the Internet. The attitudes, knowledge and preferences for risk information concerning NIPT in young adults are important, in order to increase knowledge on how to educate and inform future parents.

Prenatal ultrasound and fetal MRI: the comparative value of each modality in prenatal diagnosis.

Science.gov (United States)

Pugash, Denise; Brugger, Peter C; Bettelheim, Dieter; Prayer, Daniela

2008-11-01

Fetal MRI is used with increasing frequency as an adjunct to ultrasound (US) in prenatal diagnosis. In this review, we discuss the relative value of both prenatal US and MRI in evaluating fetal and extra-fetal structures for a variety of clinical indications. Advantages and disadvantages of each imaging modality are addressed. In summary, MRI has advantages in demonstrating pathology of the brain, lungs, complex syndromes, and conditions associated with reduction of amniotic fluid. At present, US is the imaging method of choice during the first trimester, and in the diagnosis of cardiovascular abnormalities, as well as for screening. In some conditions, such as late gestational age, increased maternal body mass index, skeletal dysplasia, and metabolic disease, neither imaging method may provide sufficient diagnostic information.

Prenatal ultrasound and fetal MRI: The comparative value of each modality in prenatal diagnosis

International Nuclear Information System (INIS)

Pugash, Denise; Brugger, Peter C.; Bettelheim, Dieter; Prayer, Daniela

2008-01-01

Fetal MRI is used with increasing frequency as an adjunct to ultrasound (US) in prenatal diagnosis. In this review, we discuss the relative value of both prenatal US and MRI in evaluating fetal and extra-fetal structures for a variety of clinical indications. Advantages and disadvantages of each imaging modality are addressed. In summary, MRI has advantages in demonstrating pathology of the brain, lungs, complex syndromes, and conditions associated with reduction of amniotic fluid. At present, US is the imaging method of choice during the first trimester, and in the diagnosis of cardiovascular abnormalities, as well as for screening. In some conditions, such as late gestational age, increased maternal body mass index, skeletal dysplasia, and metabolic disease, neither imaging method may provide sufficient diagnostic information

Prenatal ultrasound and fetal MRI: The comparative value of each modality in prenatal diagnosis

Energy Technology Data Exchange (ETDEWEB)

Pugash, Denise [Department of Radiology, University of British Columbia, Vancouver (Canada)], E-mail: dpugash@cw.bc.ca; Brugger, Peter C. [Integrative Morphology Group, Centre of Anatomy and Cell Biology, Medical University of Vienna, Waehringerstrasse 13, 1090 Vienna (Austria); Bettelheim, Dieter [University Clinics of Obstetrics and Gynaecology, Medical University of Vienna, Waehringerguertel 18-20, 1090 Wien (Austria); Prayer, Daniela [University Clinics of Radiodiagnostics, Medical University of Vienna, Waehringerguertel 18-20, 1090 Wien (Austria)

2008-11-15

Fetal MRI is used with increasing frequency as an adjunct to ultrasound (US) in prenatal diagnosis. In this review, we discuss the relative value of both prenatal US and MRI in evaluating fetal and extra-fetal structures for a variety of clinical indications. Advantages and disadvantages of each imaging modality are addressed. In summary, MRI has advantages in demonstrating pathology of the brain, lungs, complex syndromes, and conditions associated with reduction of amniotic fluid. At present, US is the imaging method of choice during the first trimester, and in the diagnosis of cardiovascular abnormalities, as well as for screening. In some conditions, such as late gestational age, increased maternal body mass index, skeletal dysplasia, and metabolic disease, neither imaging method may provide sufficient diagnostic information.

Cell-baswd non-invasive prenatal testing

DEFF Research Database (Denmark)

Uldbjerg, Niels; Singh, Ripudaman; Christensen, Rikke

that fetal cells are stable in blood samples stored up to 48 hours. Using these cells, we have detected subchromosomal abnormalities including one with mosaic 45, X/46, X, r(X) which have been confirmed at DNA from chorion villus sampling. Conclusions: We conclude that fcmb-NIPT deserves full attention......CONTROL ID: 2520273 ABSTRACT FINAL ID: OC06.03 TITLE: Cell based Non-invasive Prenatal Testing (NIPT) AUTHORS (FIRST NAME, LAST NAME): Niels Uldbjerg2, Ripudaman Singh4, Rikke Christensen3, Palle Schelde4, Ida Vogel1, Else Marie Vestergaard3, Lotte Hatt4, Steen Kølvrå4 INSTITUTIONS (ALL): 1...... therefore hypothesize that NIPT based on amplified DNA from fetal cells circulating in maternal blood (fcmb-NIPT) will make it possible to detect subchromosomal aberrations. Methods: We obtained 30 ml of whole blood from 100 pregnant women undergoing chorion villus sampling at a gestational age of 10...

Prenatal Care: Second Trimester Visits

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... Pregnancy week by week During the second trimester, prenatal care includes routine lab tests and measurements of your ... too. By Mayo Clinic Staff The goal of prenatal care is to ensure that you and your baby ...

1968 Prototype Diagnostic Test.

Science.gov (United States)

Veterans Administration Hospital, Bedford, MA.

This true-false diagnostic test was used for pretesting of employees at a Veterans Administration Hospital. The test is comprised of 20 items. An alternate test--Classification Questionnaire--was used for testing after remedial training. (For related document, see TM 002 334.) (DB)

The effect of a decision aid on informed decision-making in the era of non-invasive prenatal testing : A randomised controlled trial

NARCIS (Netherlands)

Beulen, Lean; Van Den Berg, Michelle; Faas, Brigitte Hw; Feenstra, Ilse; Hageman, Michiel; Van Vugt, John Mg; Bekker, Mireille N.

2016-01-01

Early in pregnancy women and their partners face the complex decision on whether or not to participate in prenatal testing for fetal chromosomal abnormalities. Several studies show that the majority of pregnant women currently do not make informed decisions regarding prenatal testing. As the range

Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women.

Science.gov (United States)

Badeau, Mylène; Lindsay, Carmen; Blais, Jonatan; Nshimyumukiza, Leon; Takwoingi, Yemisi; Langlois, Sylvie; Légaré, France; Giguère, Yves; Turgeon, Alexis F; Witteman, William; Rousseau, François

2017-11-10

Common fetal aneuploidies include Down syndrome (trisomy 21 or T21), Edward syndrome (trisomy 18 or T18), Patau syndrome (trisomy 13 or T13), Turner syndrome (45,X), Klinefelter syndrome (47,XXY), Triple X syndrome (47,XXX) and 47,XYY syndrome (47,XYY). Prenatal screening for fetal aneuploidies is standard care in many countries, but current biochemical and ultrasound tests have high false negative and false positive rates. The discovery of fetal circulating cell-free DNA (ccfDNA) in maternal blood offers the potential for genomics-based non-invasive prenatal testing (gNIPT) as a more accurate screening method. Two approaches used for gNIPT are massively parallel shotgun sequencing (MPSS) and targeted massively parallel sequencing (TMPS). To evaluate and compare the diagnostic accuracy of MPSS and TMPS for gNIPT as a first-tier test in unselected populations of pregnant women undergoing aneuploidy screening or as a second-tier test in pregnant women considered to be high risk after first-tier screening for common fetal aneuploidies. The gNIPT results were confirmed by a reference standard such as fetal karyotype or neonatal clinical examination. We searched 13 databases (including MEDLINE, Embase and Web of Science) from 1 January 2007 to 12 July 2016 without any language, search filter or publication type restrictions. We also screened reference lists of relevant full-text articles, websites of private prenatal diagnosis companies and conference abstracts. Studies could include pregnant women of any age, ethnicity and gestational age with singleton or multifetal pregnancy. The women must have had a screening test for fetal aneuploidy by MPSS or TMPS and a reference standard such as fetal karyotype or medical records from birth. Two review authors independently carried out study selection, data extraction and quality assessment (using the QUADAS-2 tool). Where possible, hierarchical models or simpler alternatives were used for meta-analysis. Sixty-five studies of

Non-invasive prenatal testing for fetal chromosome abnormalities: review of clinical and ethical issues

Directory of Open Access Journals (Sweden)

Gekas J

2016-02-01

Full Text Available Jean Gekas,1,2 Sylvie Langlois,3 Vardit Ravitsky,4 François Audibert,5 David Gradus van den Berg,6 Hazar Haidar,4 François Rousseau2,7 1Prenatal Diagnosis Unit, Department of Medical Genetics and Pediatrics, Faculty of Medicine, Université Laval, Québec City, QC, Canada; 2Department of Medical Biology, CHU de Québec, Québec City, QC, Canada; 3Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; 4Bioethics Program, Department of Social and Preventive Medicine, School of Public Health, University of Montreal, Montreal, QC, Canada; 5Department of Obstetrics and Gynecology, Hospital Sainte-Justine, Montreal, QC, Canada; 6Department of Social and Preventive Medicine, Faculty of Medicine, Université Laval, Québec City, QC, Canada; 7Department of Molecular Biology, Medical Biochemistry and Pathology, Faculty of Medicine, Université Laval, Québec City, QC, Canada Abstract: Genomics-based non-invasive prenatal screening using cell-free DNA (cfDNA screening was proposed to reduce the number of invasive procedures in current prenatal diagnosis for fetal aneuploidies. We review here the clinical and ethical issues of cfDNA screening. To date, it is not clear how cfDNA screening is going to impact the performances of clinical prenatal diagnosis and how it could be incorporated in real life. The direct marketing to users may have facilitated the early introduction of cfDNA screening into clinical practice despite limited evidence-based independent research data supporting this rapid shift. There is a need to address the most important ethical, legal, and social issues before its implementation in a mass setting. Its introduction might worsen current tendencies to neglect the reproductive autonomy of pregnant women. Keywords: prenatal diagnosis, Down syndrome, non-invasive prenatal testing, cell-free fetal DNA, informed consent, reproductive autonomy

Myasthenia Gravis: Tests and Diagnostic Methods

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... Focus on MG Newsletter MG Quarterly Test & Diagnostic methods In addition to a complete medical and neurological ... How can I help? About MGFA Test & Diagnostic methods Treatment for MG FAQ's Upcoming Events 2018 MG ...

Recent diagnostic and therapeutic approaches to prenatally and perinatally diagnosed hydronephrosis and their implementation in the University Clinical Hospital Mostar.

Science.gov (United States)

Mandić, Vjekoslav; Martinović, Vlatka; Kvesić, Ante; Bukvić, Nado; Skitarelić, Nataša; Brekalo, Zdrinko; Ivanković, Krunoslav; Šetka, Violeta

2015-03-01

A shift of the diagnostics of urological malformations towards the fetal age by means of ultrasound, especially hydronephrosis which, apart from reflux, is the most frequent developmental urological disorder, opened many dilemmas and debates. In the course of more than three decades the application of this diagnostic approach to the problem of hydrone- phrosis became a routine clinical practice in all modern clinics. In this paper we present the problems related to this diagnostic method and its delayed application in the Mostar University Clinical Hospital. Along with the exposition of a general approach to the problem of hydronephrosis we briefly present our modest collection of cases which points to the most recent trend of a vigorous medical development in this region, despite unfavorable overall conditions which prevailed so far. The observation included 56 children with prenatal, perinatal and early age determination of pyelon dilatation by means of ultrasonic exploration who were treated surgically. Of this number 32 (57.14%) were male, and 24 (42.86%) female children. Of the observed patients 56 had unilateral and 6 had bilateral pyelon dilatation so that 62 kidneys in all were observed and treated. The dilatation was determined prenatally in 24 (38.7%) out of 62 kidneys observed in all, in 7 (11.29%) the disorder was observed perinatally and in remaining 31 cases (49.9%) it manifested during early childhood, school age, even at the age of pre-puberty. Of the children with prenatally and perinatally determined dilatation, in 14 (45.16%) out of 31 (100.0%) observed kidneys the ap radius of the dilated pyelon was between 10-15 mm, and in 17 (54.84%) more than 15 mm. Along with other examinations (MAG3 and DMSA) the patients were followed-up by ultrasonic exploration of the observed kidney for 6 to 30 (average 18) months after postnatal diagnosis; the ultrasonic exploration was repeated in intervals of 6 months. Within 12 months of birth surgical intervention

[Performance of prenatal diagnosis and postnatal development of congenital lung malformations].

Science.gov (United States)

Desseauve, D; Dugué-Marechaud, M; Maurin, S; Gatibelza, M-È; Vequeau-Goua, V; Mergy-Laurent, M; Levard, G; Pierre, F

2015-04-01

For many diseases, the comparison of prenatal diagnosis with a histopathological reality is not always possible. Fetal lung pathology, with its high rate of surgery in postnatal, allows this assessment. This study proposes an approach to the reliability of prenatal diagnosis and analysis of the postnatal development of all children in care for congenital pulmonary malformation (CPM). This is a retrospective study of all cases of CPM diagnosed in Poitiers University Hospital from 1995 to 2011. Cases diagnosed prenatally were identified and the diagnostic accuracy was studied by histology when cases had surgery. The postnatal development of prenatally diagnosed cases is described and compared to children who did not receive prenatal diagnosis. Among the 45 cases of CPM supported at the Poitiers University Hospital, 30 had received prenatal diagnosis of isolated CPM. The diagnostic concordance between antenatal ultrasound and the final diagnosis is κ=0.67 (CI95% [0.38 to 0.94]). The sensitivity of ultrasound was 90% (CI95% [55-99.7]) in our series for the diagnosis of CAMP (cystic adenomatoid malformation pulmonary). We found a sonographic disappearance of lesions in 4 children, 1 child in regression, stable lesions in 21 cases. Four children showed an increase in volume of the malformation, with signs of poor tolerance in 3 cases. After birth, children who received a prenatal diagnosis were no more symptomatic than those whose diagnosis was made postnatal: 21 (70%) versus 11 (73%; P=1) respectively. Similarly, they often received prophylactic surgery: 18 (60%) versus 2 (13%) respectively (P<0.01) and less often suffered post-surgery complication: 3 (10%) versus 10 (67%) respectively (P<0.01). The number of children monitored was not significantly different in the two groups. Prenatal diagnosis allows for the precise nature of the lesion in 90% of cases in 2013 and had no impact on symptomatology at birth. When prenatal diagnosis is possible, preventive

Ebstein's anomaly with imperforate tricuspid valve. Prenatal diagnosis

Directory of Open Access Journals (Sweden)

Zielinsky Paulo

2000-01-01

Full Text Available Ebstein's anomaly is an uncommon congenital heart defect, with a prevalence of 0.3-0.5%. Its association with an imperforate tricuspid valve is an even more rare situation (less than 10% of cases. Prenatal diagnosis of this association by means of fetal echocardiography has not been reported. We describe here this association diagnosed before birth and confirmed after birth. The diagnostic potential and importance of fetal echocardiography during prenatal evaluation of cardiac malformations allows for adequate perinatal planning and management, with an obvious impact on morbidity and mortality.

Karyotyping or rapid aneuploidy detection in prenatal diagnosis? The different views of users and providers of prenatal care

NARCIS (Netherlands)

Boormans, E. M. A.; Birnie, E.; Bilardo, C. M.; Oepkes, D.; Bonsel, G. J.; van Lith, J. M. M.

2009-01-01

Developments in prenatal diagnosis raise the question which test strategy should be implemented. However, preferences of women and caregivers are underexposed. This study investigates what kind of prenatal test pregnant women and caregivers prefer and if differences between the groups exist, using

Diagnosis of asthma: diagnostic testing.

Science.gov (United States)

Brigham, Emily P; West, Natalie E

2015-09-01

Asthma is a heterogeneous disease, encompassing both atopic and non-atopic phenotypes. Diagnosis of asthma is based on the combined presence of typical symptoms and objective tests of lung function. Objective diagnostic testing consists of 2 components: (1) demonstration of airway obstruction, and (2) documentation of variability in degree of obstruction. A review of current guidelines and literature was performed regarding diagnostic testing for asthma. Spirometry with bronchodilator reversibility testing remains the mainstay of asthma diagnostic testing for children and adults. Repetition of the test over several time points may be necessary to confirm airway obstruction and variability thereof. Repeated peak flow measurement is relatively simple to implement in a clinical and home setting. Bronchial challenge testing is reserved for patients in whom the aforementioned testing has been unrevealing but clinical suspicion remains, though is associated with low specificity. Demonstration of eosinophilic inflammation, via fractional exhaled nitric oxide measurement, or atopy, may be supportive of atopic asthma, though diagnostic utility is limited particularly in nonatopic asthma. All efforts should be made to confirm the diagnosis of asthma in those who are being presumptively treated but have not had objective measurements of variability in the degree of obstruction. Multiple testing modalities are available for objective confirmation of airway obstruction and variability thereof, consistent with a diagnosis of asthma in the appropriate clinical context. Providers should be aware that both these characteristics may be present in other disease states, and may not be specific to a diagnosis of asthma. © 2015 ARS-AAOA, LLC.

Current status of prenatal diagnosis in Cuba: causes of low prevalence of Down syndrome.

Science.gov (United States)

Méndez-Rosado, L A; Hechavarría-Estenoz, D; de la Torre, M E; Pimentel-Benitez, H; Hernández-Gil, J; Perez, B; Barrios-Martínez, A; Morales-Rodriguez, E; Soriano-Torres, M; Garcia, M; Suarez-Mayedo, U; Cedeño-Aparicio, N; Blanco, I; Díaz-Véliz, P; Vidal-Hernández, B; Mitjans-Torres, M; Miñoso, S; Alvarez-Espinosa, D; Reyes-Hernández, E; Angulo-Cebada, E; Torres-Palacios, M; Lozano-Lezcano, L; Lima-Rodriguez, U; Mayeta, M; Noblet, M; Benítez, Y; Lardoeyt-Ferrer, R; Yosela-Martin, S; Carbonell, P; Pérez-Ramos, M; de León, N; Perez, M; Carbonell, J

2014-11-01

To analyze trends in cytogenetic prenatal diagnosis in Cuba and to analyze possible causes leading to a low Down syndrome prevalence in a country where the triple test is not available. An analysis of the Cuban program in prenatal cytogenetic diagnosis from 1984 to 2012 was conducted. Results are described, with particular emphasis on indications, abnormal results, types of invasive procedures, and terminations of pregnancy. Cytogenetic prenatal diagnostic analyses (n = 75,095) were conducted; maternal age was the indication for 77.9% of the amniocenteses and chorionic villus samplings. The detection rate of chromosomally abnormal pregnancies was 2.3% for maternal age and increased to 8-9% for other indications. When a chromosomal abnormality was identified, 88.5% terminated the pregnancy. In 2002, the live birth prevalence of Down syndrome was 8.4 per 10,000 live births, and in 2012, 7 per 10,000. Prenatal diagnosis in Cuba has contributed to a significant reduction in chromosomal aberrations. The impact increased because of the demographic trends of the population, the high index of terminations of pregnancy, and the establishment of a network of cytogenetic laboratories throughout Cuba. © 2014 John Wiley & Sons, Ltd.

Informed Consent - Attitudes, knowledge and information concerning prenatal examination

DEFF Research Database (Denmark)

Dahl, Katja; Kesmodel, Ulrik; Hvidman, Lone

estimates is low and possible consequences if the test reveals a problem is seldom considered beforehand. A woman's attitude to prenatal examinations is found decisive for up-take of prenatal tests, with no association between a woman's attitude towards prenatal examinations and her knowledge of those tests....... Most women consider their doctor an important source of information, and state that information has influenced their decision.      Conclusions: Pregnant women favor prenatal examinations, but participation does not seem to be based on an informed consent....

Prenatal screening for fetal aneuploidy in singleton pregnancies.

Science.gov (United States)

Chitayat, David; Langlois, Sylvie; Douglas Wilson, R

2011-07-01

To develop a Canadian consensus document on maternal screening for fetal aneuploidy (e.g., Down syndrome and trisomy 18) in singleton pregnancies. Pregnancy screening for fetal aneuploidy started in the mid 1960s, using maternal age as the screening test. New developments in maternal serum and ultrasound screening have made it possible to offer all pregnant patients a non-invasive screening test to assess their risk of having a fetus with aneuploidy to determine whether invasive prenatal diagnostic testing is necessary. This document reviews the options available for non-invasive screening and makes recommendations for Canadian patients and health care workers. To offer non-invasive screening for fetal aneuploidy (trisomy 13, 18, 21) to all pregnant women. Invasive prenatal diagnosis would be offered to women who screen above a set risk cut-off level on non-invasive screening or to pregnant women whose personal, obstetrical, or family history places them at increased risk. Currently available non-invasive screening options include maternal age combined with one of the following: (1) first trimester screening (nuchal translucency, maternal age, and maternal serum biochemical markers), (2) second trimester serum screening (maternal age and maternal serum biochemical markers), or (3) 2-step integrated screening, which includes first and second trimester serum screening with or without nuchal translucency (integrated prenatal screen, serum integrated prenatal screening, contingent, and sequential). These options are reviewed, and recommendations are made. Studies published between 1982 and 2009 were retrieved through searches of PubMed or Medline and CINAHL and the Cochrane Library, using appropriate controlled vocabulary and key words (aneuploidy, Down syndrome, trisomy, prenatal screening, genetic health risk, genetic health surveillance, prenatal diagnosis). Results were restricted to systematic reviews, randomized controlled trials, and relevant observational

Increased preference for ethanol in the infant rat after prenatal ethanol exposure, expressed on intake and taste reactivity tests.

Science.gov (United States)

Arias, Carlos; Chotro, M Gabriela

2005-03-01

Previous studies have shown that prenatal exposure during gestational days 17 to 20 to low or moderate doses of ethanol (1 or 2 g/kg) increases alcohol intake in infant rats. Taking into account that higher consumption does not necessarily suggest a preference for alcohol, in the present study, the hedonic nature of the prenatal experience was analyzed further with the use of a taste reactivity test. General activity, wall climbing, passive drips, paw licking, and mouthing in response to intraoral infusions of alcohol, water, and a sucrose-quinine solution (which resembles alcohol taste in rats) were tested in 161 preweanling 14-day-old rat pups that were prenatally exposed to 0, 1, or 2 g/kg of alcohol during gestational days 17 to 20. Consumption of those substances was measured during the taste reactivity test and on postnatal day 15. Pups that were prenatally exposed to both doses of ethanol displayed lower levels of general activity and wall climbing than controls in response to ethanol. Infant rats that were treated prenatally with both doses of ethanol showed higher intake of the drug and also more mouthing and paw licking in response to ethanol taste. Only pups that were exposed to the higher ethanol dose in utero generalized those responses to the sucrose-quinine compound. These results seem to indicate that for the infant rat, the palatability of ethanol is enhanced after exposure to the drug during the last days of gestation.

Comportamiento del programa de diagnóstico prenatal cromosómico Behavior of the prenatal chromosomal diagnostic program

Directory of Open Access Journals (Sweden)

Mabel Domínguez Mena

2005-04-01

Full Text Available Se realizó un estudio descriptivo en el Centro de Desarrollo de la Genética del municipio La Lisa, en el período comprendido de enero de 1999 hasta diciembre de 2003. La muestra la conformaron 251 embarazadas con edad materna avanzada (38 años o más que acudieron a recibir asesoramiento genético por tener riesgo incrementado de cromosomopatías. Los datos fueron procesados con el cálculo porcentual. Se realizaron diagnóstico prenatal (DPN 189 pacientes (75,29 %, y se obtuvieron 6 casos positivos, 4 síndrome Down (47 XY+21, 1 súper macho (47 XYY, 1 trisomía 18 (47 XY+18 y 15 casos sin resultados. No se realizaron el diagnóstico prenatal 62 pacientes, 12 por amenaza de aborto, 25 por edad gestacional avanzada, 25 por negarse a la realización del proceder y 3 por otras causas. El asesoramiento genético fue no directivo, respetando las decisiones personales, confiabilidad, exponiendo la relación riesgo / beneficio y obteniendo el consentimiento informado para su realización.A descriptive study was conducted in the Center of Genetic Development in La Lisa municipality from January 1999 to December 2003. The sample was composed of 251 pregnant women with advanced maternal age (38 or over that seeked genetic counselling for having increased risk of chromosomopathies. The data were processed by the percentage calculation. 189 patients (75.29 % were prenatally diagnosed (PND. 6 cases were positive, 4 Down's syndrome (47 XY+ 21, 1 super male (47 XYY, 1 trisomy 18 (47 XY + 18 and 15 cases without results. The prenatal diagnosis was not made in 62 patients, 12 due to threatened abortion, 25 due to advanced gestational age, 25 rejected the procedure and 3 for other causes. The genetic counseling was not directive. It respected the personal decisions and it was also reliable, presented the risk-benefit relation and required the informed consent.

Use of a portable system with ultrasound and blood tests to improve prenatal controls in rural Guatemala.

Science.gov (United States)

Crispín Milart, Patricia Hanna; Diaz Molina, César Augusto; Prieto-Egido, Ignacio; Martínez-Fernández, Andrés

2016-09-13

Maternal and neonatal mortality figures remain unacceptably high worldwide and new approaches are required to address this problem. This paper evaluates the impact on maternal and neonatal mortality of a pregnancy care package for rural areas of developing countries with portable ultrasound and blood/urine tests. An observational study was conducted, with intervention and control groups not randomly assigned. Rural areas of the districts of Senahu, Campur and Carcha, in Alta Verapaz Department (Guatemala). The control group is composed by 747 pregnant women attended by the community facilitator, which is the common practice in rural Guatemala. The intervention group is composed by 762 pregnant women attended under the innovative Healthy Pregnancy project. That project strengthens the local prenatal care program, providing local nurses training, portable ultrasound equipment and blood and urine tests. The information of each pregnancy is registered in a medical exchange tool, and is later reviewed by a gynecology specialist to ensure a correct diagnosis and improve nurses training. No maternal deaths were reported within the intervention group, versus five cases in the control group. Regarding neonatal deaths, official data revealed a 64 % reduction for neonatal mortality. A 37 % prevalence of anemia was detected. Non-urgent referral was recommended to 70 pregnancies, being fetal malpresentation the main reported cause. Impact data on maternal mortality (reduction to zero) and neonatal mortality (NMR was reduced to 36 %) are encouraging, although we are aware of the limitations of the study related to possible biasing and the small sample size. The major reduction of maternal and neonatal mortality provides promising prospects for these low-cost diagnostic procedures, which allow to provide high quality prenatal care in isolated rural communities of developing countries. This research was not registered because it is an observational study where the assignment of

Methodology of diagnostic tests in hepatology

DEFF Research Database (Denmark)

Christensen, Erik

2009-01-01

The performance of diagnostic tests can be assessed by a number of methods. These include sensitivity, specificity,positive and negative predictive values, likelihood ratios and receiver operating characteristic (ROC) curves. This paper describes the methods and explains which information...... they provide. Sensitivity and specificity provides measures of the diagnostic accuracy of a test in diagnosing the condition. The positive and negative predictive values estimate the probability of the condition from the test-outcome and the condition's prevalence. The likelihood ratios bring together......' and plotting sensitivity as a function of 1-specificity. The ROC-curve can be used to define optimal cut-off values for a test, to assess the diagnostic accuracy of the test, and to compare the usefulness of different tests in the same patients. Under certain conditions it may be possible to utilize a test...

Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes

DEFF Research Database (Denmark)

Eggermann, Thomas; Brioude, Frédéric; Russo, Silvia

2016-01-01

Beckwith-Wiedemann and Silver-Russell syndromes (BWS/SRS) are two imprinting disorders (IDs) associated with disturbances of the 11p15.5 chromosomal region. In BWS, epimutations and genomic alterations within 11p15.5 are observed in >70% of patients, whereas in SRS they are observed in about 60% ......, the consequences for prenatal genetic testing and counseling and our cumulative experience in dealing with these disorders.European Journal of Human Genetics advance online publication, 28 October 2015; doi:10.1038/ejhg.2015.224....

Prenatal care in a specialized diabetes in pregnancy program improves compliance with postpartum testing in GDM women.

Science.gov (United States)

Huynh, Terri; Ghaffari, Neda; Bastek, Jamie; Durnwald, Celeste

2017-05-01

To evaluate whether prenatal care in a specialized diabetes in pregnancy program (DMC) improves compliance with completion of the 2-h 75 g oral glucose tolerance test (2HrOGTT) in GDM women. A retrospective cohort study of GDM women delivering in a university health system between January 2011 and March 2014 was performed. Women were divided into two groups: those receiving care in prenatal clinics over an 18-month period prior to the establishment of the diabetes in pregnancy clinic (pre-DMC) and those receiving prenatal care in a specialized diabetes in pregnancy clinic (post-DMC). The primary outcome was completion of the 2HrOGTT postpartum. Clinical characteristics associated with 2HrOGTT completion were evaluated. Time trend analysis was performed to evaluate month to month variation in 2HrOGTT compliance for secular trends. A total of 292 women were analyzed, 147 post-DMC and 118 pre-DMC. The 2HrOGTT was ordered more frequently in the post-DMC compared to pre-DMC (90.0 versus 53.0%, p prenatal care post-DMC were 2.98 times more likely to complete the 2HrOGTT compared to those receiving care pre-DMC (OR 2.98 [1.34, 6.62], p = 0.007). Providers were 5.9 times more likely to order the recommended testing for GDM women who attended the postpartum visit in the post-DMC period. GDM women who receive prenatal care in a specialized diabetes in pregnancy program are more likely to complete the 2HrOGTT in the postpartum period.

Non-invasive prenatal diagnosis using cell-free fetal DNA technology: applications and implications.

Science.gov (United States)

Hall, Alison; Bostanci, A; Wright, C F

2010-01-01

Cell-free fetal DNA and RNA circulating in maternal blood can be used for the early non-invasive prenatal diagnosis (NIPD) of an increasing number of genetic conditions, both for pregnancy management and to aid reproductive decision-making. Here we present a brief review of the scientific and clinical status of the technology, and an overview of key ethical, legal and social issues raised by the analysis of cell-free fetal DNA for NIPD. We suggest that the less invasive nature of the technology brings some distinctive issues into focus, such as the possibility of broader uptake of prenatal diagnosis and access to the technology directly by the consumer via the internet, which have not been emphasised in previous work in this area. We also revisit significant issues that are familiar from previous debates about prenatal testing. Since the technology seems to transect existing distinctions between screening and diagnostic tests, there are important implications for the form and process involved in obtaining informed consent or choice. This analysis forms part of the work undertaken by a multidisciplinary group of experts which made recommendations about the implementation of this technology within the UK National Health Service. Copyright 2010 S. Karger AG, Basel.

Participation in prenatal screening tests and intentions concerning selective termination in Finnish maternity care

DEFF Research Database (Denmark)

Santalahti, P; Hemminki, E; Aro, A R

1999-01-01

AIMS: The study examined how prenatal screening tests are presented to women, factors associated with women's participation in screening, their experience of decision-making and intentions concerning pregnancy termination, and hospital data on rates of selective terminations. METHODS: Questionnai......AIMS: The study examined how prenatal screening tests are presented to women, factors associated with women's participation in screening, their experience of decision-making and intentions concerning pregnancy termination, and hospital data on rates of selective terminations. METHODS...... as a routine procedure. Most women (92%) underwent serum screening and most (86%) found the decision to participate or not easy. In almost every aspect of presentation and participation studied, serum and ultrasound screening differed from each other. 85% of respondents to ultrasound screening answered...... in screening and with intentions about selective termination, women's perceptions of lives of the disabled should receive more attention in future studies....

Prenatal stress may increase vulnerability to life events comparison with the effects of prenatal dexamethasone

DEFF Research Database (Denmark)

Hougaard, Karin; Andersen, Maibritt B; Kjaer, Sanna L

2005-01-01

naïve at the time of ASR testing, whereas the other had been through blood sampling for assessment of the hormonal stress response to restraint, 3 months previously. Both prenatal CMS and dexamethasone increased ASR in the offspring compared to controls, but only in prenatally stressed offspring......Prenatal stress has been associated with a variety of alterations in the offspring. The presented observations suggest that rather than causing changes in the offspring per se, prenatal stress may increase the organism's vulnerability to aversive life events. Offspring of rat dams stressed...... of the acoustic startle response. Further, a single aversive life event showed capable of changing the reactivity of prenatally stressed offspring, whereas offspring of dams going through a less stressful gestation was largely unaffected by this event. This suggests that circumstances dating back to the very...

Difficulties with Prenatal Diagnosis of the Walker-Warburg Syndrome

International Nuclear Information System (INIS)

Low, A.S.C.; Lee, S.L.; Tan, A.S.A.; Chan, D.K.L.; Chan, L.L.

2005-01-01

We describe a postnatally diagnosed case of Walker-Warburg syndrome - a form of congenital muscular dystrophy with lissencephaly and eye abnormalities. We reviewed the literature to highlight its clinico-radiological diagnostic features and discuss the difficulties encountered with prenatal diagnosis, especially in cases with no positive family history. An increased awareness of this rare but lethal condition, and a high index of suspicion during routine antenatal ultrasound, could prompt further advanced fetal ultrasonography and magnetic resonance imaging, and aid in timely prenatal diagnosis, management, and counseling. Brain/brainstem, congenital, magnetic resonance imaging, obstetrics, pediatrics, ultrasound

Difficulties with Prenatal Diagnosis of the Walker-Warburg Syndrome

Energy Technology Data Exchange (ETDEWEB)

Low, A.S.C.; Lee, S.L.; Tan, A.S.A.; Chan, D.K.L.; Chan, L.L. [Singapore General Hospital (Singapore). Depts. of Diagnostic Radiology, Obstetrics and Gynecology and Neonatology

2005-10-01

We describe a postnatally diagnosed case of Walker-Warburg syndrome - a form of congenital muscular dystrophy with lissencephaly and eye abnormalities. We reviewed the literature to highlight its clinico-radiological diagnostic features and discuss the difficulties encountered with prenatal diagnosis, especially in cases with no positive family history. An increased awareness of this rare but lethal condition, and a high index of suspicion during routine antenatal ultrasound, could prompt further advanced fetal ultrasonography and magnetic resonance imaging, and aid in timely prenatal diagnosis, management, and counseling. Brain/brainstem, congenital, magnetic resonance imaging, obstetrics, pediatrics, ultrasound.

Noninvasive Prenatal Testing and Incidental Detection of Occult Maternal Malignancies.

Science.gov (United States)

Bianchi, Diana W; Chudova, Darya; Sehnert, Amy J; Bhatt, Sucheta; Murray, Kathryn; Prosen, Tracy L; Garber, Judy E; Wilkins-Haug, Louise; Vora, Neeta L; Warsof, Stephen; Goldberg, James; Ziainia, Tina; Halks-Miller, Meredith

2015-07-14

Understanding the relationship between aneuploidy detection on noninvasive prenatal testing (NIPT) and occult maternal malignancies may explain results that are discordant with the fetal karyotype and improve maternal clinical care. To evaluate massively parallel sequencing data for patterns of copy-number variations that might prospectively identify occult maternal malignancies. Case series identified from 125,426 samples submitted between February 15, 2012, and September 30, 2014, from asymptomatic pregnant women who underwent plasma cell-free DNA sequencing for clinical prenatal aneuploidy screening. Analyses were conducted in a clinical laboratory that performs DNA sequencing. Among the clinical samples, abnormal results were detected in 3757 (3%); these were reported to the ordering physician with recommendations for further evaluation. NIPT for fetal aneuploidy screening (chromosomes 13, 18, 21, X, and Y). Detailed genome-wide bioinformatics analysis was performed on available sequencing data from 8 of 10 women with known cancers. Genome-wide copy-number changes in the original NIPT samples and in subsequent serial samples from individual patients when available are reported. Copy-number changes detected in NIPT sequencing data in the known cancer cases were compared with the types of aneuploidies detected in the overall cohort. From a cohort of 125,426 NIPT results, 3757 (3%) were positive for 1 or more aneuploidies involving chromosomes 13, 18, 21, X, or Y. From this set of 3757 samples, 10 cases of maternal cancer were identified. Detailed clinical and sequencing data were obtained in 8. Maternal cancers most frequently occurred with the rare NIPT finding of more than 1 aneuploidy detected (7 known cancers among 39 cases of multiple aneuploidies by NIPT, 18% [95% CI, 7.5%-33.5%]). All 8 cases that underwent further bioinformatics analysis showed unique patterns of nonspecific copy-number gains and losses across multiple chromosomes. In 1 case, blood was

Active coping of prenatally stressed rats in the forced swimming test: involvement of the Nurr1 gene.

Science.gov (United States)

Montes, Pedro; Ruiz-Sánchez, Elizabeth; Calvillo, Minerva; Rojas, Patricia

2016-09-01

Depending on genetic predisposition, prenatal stress may result in vulnerability or resilience to develop psychiatric disorders in adulthood. Nurr1 is an immediate early gene, important in the brain for the stress response. We tested the hypothesis that prenatal stress and the decrease of hippocampal Nurr1 alter offspring behavioral responses in the forced swimming test (FST). Pregnant Wistar rats were exposed to restraint stress (45 min, thrice daily) from gestation day 14. Prenatally stressed (PS) and non-prenatally stressed (NPS) male offspring were treated bilaterally with a Nurr1 antisense oligodeoxynucleotide (ODN; or control) into the hippocampus at 97 d of age. After 1 h, the rats were exposed to the FST (acute stressor) to analyze their behavioral responses. Thirty minutes after the FST, we analyzed the gene expression of Nurr1, Bdnf and Nr3c1 (genes for Nurr1, brain-derived neurotrophic factor (BDNF) and glucocorticoid receptor (GR), respectively) in the hippocampus, prefrontal cortex (PFC) and hypothalamus. Results showed that the decrease of hippocampal Nurr1 after the antisense ODN in adult NPS rats induces immobility (indicating depressive-like behavior). The PS adult rats, including the group with decreased hippocampal Nurr1, presented low immobility in the FST. This low immobility was concordant with maintenance of Nurr1 and Bdnf expression levels in the three analyzed brain regions; Nr3c1 gene expression was also maintained in the PFC and hypothalamus. These findings suggest that Nurr1 and associated genes could participate in the brain modifications induced by prenatal stress, allowing active coping (resilience) with acute stress in adulthood.

Playfulness and prenatal alcohol exposure: a comparative study.

Science.gov (United States)

Pearton, Jordan Louise; Ramugondo, Elelwani; Cloete, Lizahn; Cordier, Reinie

2014-08-01

South Africa carries a high burden of alcohol abuse. The effects of maternal alcohol consumption during pregnancy are most pronounced in poor, rural communities. Earlier research suggests that children with prenatal alcohol exposure have poor social behaviour; however, to date, no research has investigated their playfulness. This study investigated the differences in playfulness of children with and without prenatal alcohol exposure. Grade one learners with a positive history of prenatal alcohol exposure (n = 15) and a reference group without a positive history of prenatal alcohol exposure (n = 15) were filmed engaging in free play at their schools. The Test of Playfulness was used to measure playfulness from recordings. Data were subjected to Rasch analysis to calculate interval level measure scores for each participant. The overall measure scores and individual Test of Playfulness social items were subjected to paired samples t-tests to calculate if significant differences existed between the groups. Children with prenatal alcohol exposure had a significantly lower mean overall playfulness score than the reference group (t = -2.51; d.f. = 28; P = 0.02). Children with prenatal alcohol exposure also scored significantly lower than the reference group on 5 of the 12 Test of Playfulness items related to social play. This research suggests that children with prenatal alcohol exposure are more likely to experience poorer overall quality of play, with particular deficits in social play. Considering play is a child's primary occupation, this finding becomes pertinent for occupational therapy practice, particularly in post-apartheid South Africa, where high prenatal alcohol exposure prevalence rates are couched within persistent socio-economic inequalities. © 2014 Occupational Therapy Australia.

BACs-on-Beads Technology: A Reliable Test for Rapid Detection of Aneuploidies and Microdeletions in Prenatal Diagnosis

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Sandra García-Herrero

2014-01-01

Full Text Available The risk of fetal aneuploidies is usually estimated based on high resolution ultrasound combined with biochemical determination of criterion in maternal blood, with invasive procedures offered to the population at risk. The purpose of this study was to investigate the effectiveness of a new rapid aneuploidy screening test on amniotic fluid (AF or chorionic villus (CV samples based on BACs-on-Beads (BoBs technology and to compare the results with classical karyotyping by Giemsa banding (G-banding of cultured cells in metaphase as the gold standard technique. The prenatal-BoBs kit was used to study aneuploidies involving chromosomes 13, 18, 21, X, and Y as well as nine microdeletion syndromes in 321 AF and 43 CV samples. G-banding of metaphase cultured cells was performed concomitantly for all prenatal samples. A microarray-based comparative genomic hybridization (aCGH was also carried out in a subset of samples. Prenatal-BoBs results were widely confirmed by classical karyotyping. Only six karyotype findings were not identified by Prenatal-BoBs, all of them due to the known limitations of the technique. In summary, the BACs-on-Beads technology was an accurate, robust, and efficient method for the rapid diagnosis of common aneuploidies and microdeletion syndromes in prenatal samples.

Effects after prenatal radiation exposures

International Nuclear Information System (INIS)

Streffer, C.

2001-01-01

The mammalian organism is highly radiosensitive during all prenatal developmental periods. For most effects a dose relationship with a threshold is observed. These threshold doses are generally above the exposures from medical diagnostic procedures. The quality and extent of radiation effects are very much dependent on the developmental stage during which an exposure takes place and on the radiation dose. An exposure during the preimplantation period will cause lethality. Malformations are usually induced after exposures during the major organogenesis. Growth retardation is also possible during the late organogenesis and foetal periods. The lower limits of threshold doses for these effects are in the range of 100 mGy. A radiation exposure during the early foetal period can lead to severe mental retardation and impairment of intelligence. There are very serious effects with radiation doses above 0.3 Gy. Carcinogenesis can apparently occur after radiation exposures during the total prenatal development period. The radiation risk factor up to now has not been clear, but it seems that it is in the range of risk factors for cancer that are observed after exposures during childhood. For radiation doses that are used in radiological diagnostics the risk is zero or very low. A termination of pregnancy after doses below 100 mGy should not be considered. (author)

Genetic screening and testing in an episode-based payment model: preserving patient autonomy.

Science.gov (United States)

Sutherland, Sharon; Farrell, Ruth M; Lockwood, Charles

2014-11-01

The State of Ohio is implementing an episode-based payment model for perinatal care. All costs of care will be tabulated for each live birth and assigned to the delivering provider, creating a three-tiered model for reimbursement for care. Providers will be reimbursed as usual for care that is average in cost and quality, while instituting rewards or penalties for those outside the expected range in either domain. There are few exclusions, and all methods of genetic screening and diagnostic testing are included in the episode cost calculation as proposed. Prenatal ultrasonography, genetic screening, and diagnostic testing are critical components of the delivery of high-quality, evidence-based prenatal care. These tests provide pregnant women with key information about the pregnancy, which, in turn, allows them to work closely with their health care provider to determine optimal prenatal care. The concepts of informed consent and decision-making, cornerstones of the ethical practice of medicine, are founded on the principles of autonomy and respect for persons. These principles recognize that patients' rights to make choices and take actions are based on their personal beliefs and values. Given the personal nature of such decisions, it is critical that patients have unbarred access to prenatal genetic tests if they elect to use them as part of their prenatal care. The proposed restructuring of reimbursement creates a clear conflict between patient autonomy and physician financial incentives.

Fetal alcohol syndrome – causes, diagnostic criteria and prevalence

OpenAIRE

Agata Horecka-Lewitowicz; Piotr Lewitowicz; Olga Adamczyk-Gruszka; Dariusz Skawiński; Monika Szpringer

2014-01-01

Fetal alcohol syndrome (FAS) is the outcome of alcohol exposition in the prenatal period. It is irreversible. In Poland, FAS is becoming more and more common, the diagnostic tools are limited though. It is recommended to use the 4-Digit Diagnostic Code, which evaluates the 4 basic FAS symptoms: growth retardation, dysmorphic appearance, damage to the central nervous system and prenatal alcohol exposure. It has been confirmed that there is no safe amount of alcohol for a mother to drink while ...

The interpretation of diagnostic tests

International Nuclear Information System (INIS)

Lamk, M.; Lamki, M.D.

1987-01-01

The progress of nuclear and other diagnostic imaging is near rampant. With almost every issue of the major journals in this field, a new diagnostic test, or at least a new utility of an old test is described. Before we accept these innovations, we have to have a clear understanding of the clinical performance of the test. The major criteria are the sensitivity and the specificity of the test. From these derived other statistical parameters such as accuracy or efficiency of that test; also, the receiver operating characteristic (ROC) curves may then be evaluated and used in comparison of different tests. When we know the prevalence of the disease tested in the population we are investigating, we can then derive the predictive value of a positive or a negative result. This introduction tries to explain these parameters to help the reader understand the literature dealing with the subject of efficacy of imaging procedures. It is not intended as a critical review of the literature on the subject or a comprehensive overview of the subject matter. The benefit derived from explaination of statistical concepts to physicians is documented in a recent publication. Explaination of these basic statistical parameters will be followed by a demonstration of the utility of multiple testing with these parameters. The reader is thereby introduced to relevant statistical concepts that must be grasped for full comprehension of published results of a new diagnostic imaging modality, or before clinical decision making

Current approaches on non-invasive prenatal diagnosis: Prenatal genomics, transcriptomics, personalized fetal diagnosis

Directory of Open Access Journals (Sweden)

Tuba Günel

2014-12-01

Full Text Available Recent developments in molecular genetics improved our knowledge on fetal genome and physiology. Novel scientific innovations in prenatal diagnosis have accelerated in the last decade changing our vision immensely. Data obtained from fetal genomic studies brought new insights to fetal medicine and by the advances in fetal DNA and RNA sequencing technology novel treatment strategies has evolved. Non-invasive prenatal diagnosis found ground in genetics and the results are widely studied in scientific arena. When Lo and colleges proved fetal genetic material can be extracted from maternal plasma and fetal DNA can be isolated from maternal serum, the gate to many exciting discoveries was open. Microarray technology and advances in sequencing helped fetal diagnosis as well as other areas of medicine. Today it is a very crucial prerequisite for physicians practicing prenatal diagnosis to have a profound knowledge in genetics. Prevailing practical use and application of fetal genomic tests in maternal and fetal medicine mandates obstetricians to update their knowledge in genetics. The purpose of this review is to assist physicians to understand and update their knowledge in fetal genetic testing from maternal blood, individualized prenatal counseling and advancements on the subject by sharing our experiences as İstanbul University Fetal Nucleic Acid Research Group.

[Magnetic resonance imaging as a prenatal diagnostic tool supplementary to ultrasound in diagnosing fetal and gestational abnormalities].

Science.gov (United States)

Porat, Shay; Agid, Ronit; Elchalal, Uriel; Ezra, Yossi; Gomori, J Moshe; Nadjari, Michelle

2002-04-01

The use of Magnetic Resonance Imaging (MRI) as a prenatal and gestational imaging modality supplementary to ultrasound has become widespread with the advent of rapid MR sequences in the last few years. These sequences allow acquisition of high-resolution images of the fetus in a single breath-holding period of the mother, with minimal fetal motion artifacts. We describe our experience with this modality in the diagnosis of prenatal and gestational abnormalities. The study population consisted of 39 pregnant women who had a total of 40 MRI examinations from 7/1998 to 7/2000. The indication for all examinations was a suspected fetal or gestational abnormality as suggested by ultrasound scan, laboratory tests or by family history. In 31 cases (77.5%) a correlation was found between the ultrasound findings and the MR imaging, of which in 6 cases (15%) the MRI added new valuable information. In 9 cases (22.5%) the MRI ruled out findings suspected by ultrasound. The prenatal findings were compared with postnatal clinical follow-up, imaging or pathology report in 26 cases (66.6%). In two cases the clinical outcome and postnatal imaging were discordant with the prenatal imaging findings in ultrasound and MRI. Although not proven, MRI is considered safe during pregnancy because it does not use ionizing radiation. It depicts fetal anatomy and pathology well. Also uterine, placental and other maternal structures are well demonstrated. This tool is useful in cases in which there is a suspicion of a malformed fetus or abnormal placenta by an ultrasound examination or in cases in which an ultrasound examination is limited by technical factors. MRI was found to help parents and doctors decide about the fate of a suspected abnormal pregnancy by adding valuable information supplemental to ultrasound examination.

Diagnostic tests based on human basophils

DEFF Research Database (Denmark)

Kleine-Tebbe, Jörg; Erdmann, Stephan; Knol, Edward F

2006-01-01

-maximal responses, termed 'intrinsic sensitivity'. These variables give rise to shifts in the dose-response curves which, in a diagnostic setting where only a single antigen concentration is employed, may produce false-negative data. Thus, in order to meaningfully utilize the current basophil activation tests....... Diagnostic studies using CD63 or CD203c in hymenoptera, food and drug allergy are critically discussed. Basophil-based tests are indicated for allergy testing in selected cases but should only be performed by experienced laboratories....

Consumerism in prenatal diagnosis: a challenge for ethical guidelines

Science.gov (United States)

Henn, W.

2000-01-01

The ethical guidelines for prenatal diagnosis proposed by the World Health Organisation (WHO), as well as by national regulations, only refer to paternity and gender of the fetus as unacceptable, disease-unrelated criteria for prenatal selection, as no other such parameters are at hand so far. This perspective is too narrow because research on complex genetic systems such as cognition and ageing is about to provide clinically applicable tests for genetic constituents of potentially desirable properties such as intelligence or longevity which could be misused as parameters for prenatal diagnosis. Moreover, there is an increasing number of prenatally testable genetic traits, such as heritable deafness, which are generally regarded as pathological but desired by some prospective parents and taken into account as parameters for pro-disability selection. To protect prenatal diagnosis from ethically unacceptable genetic consumerism, guidelines must be clarified as soon as possible and updated towards a worldwide restriction of prenatal genetic testing to immediately disease-determining traits. Key Words: Genetics • prenatal diagnosis • ethics • consumerism PMID:11129845

The accuracy of 2D ultrasound prenatal sex determination ...

African Journals Online (AJOL)

Most of the women were happy even when the sex differed from that which they desired. Conclusion: Prenatal sonographic sex determination has a high sensitivity index. Consequently we advocate its use prior to more invasive sex tests. Keywords: Accuracy, gender determination, prenatal gender, prenatal sex, sex ...

Ovarian cysts on prenatal MRI

International Nuclear Information System (INIS)

Nemec, Ursula; Nemec, Stefan F.; Bettelheim, Dieter; Brugger, Peter C.; Horcher, Ernst; Schöpf, Veronika; Graham, John M.; Rimoin, David L.; Weber, Michael; Prayer, Daniela

2012-01-01

Objective: Ovarian cysts are the most frequently encountered intra-abdominal masses in females in utero. They may, at times, require perinatal intervention. Using magnetic resonance imaging (MRI) as an adjunct to ultrasonography (US) in prenatal diagnosis, we sought to demonstrate the ability to visualize ovarian cysts on prenatal MRI. Materials and methods: This retrospective study included 17 fetal MRI scans from 16 female fetuses (23–37 gestational weeks) with an MRI diagnosis of ovarian cysts after suspicious US findings. A multiplanar MRI protocol was applied to image and to characterize the cysts. The US and MRI findings were compared, and the prenatal findings were compared with postnatal imaging findings or histopathology. Results: Simple ovarian cysts were found in 10/16 cases and complex cysts in 7/16 cases, including one case with both. In 11/16 (69%) cases, US and MRI diagnoses were in agreement, and, in 5/16 (31%) cases, MRI specified or expanded the US diagnosis. In 6/16 cases, postnatal US showed that the cysts spontaneously resolved or decreased in size, and in 1/16 cases, postnatal imaging confirmed a hemorrhagic cyst. In 4/16 cases, the prenatal diagnoses were confirmed by surgery/histopathology, and for the rest, postnatal correlation was not available. Conclusion: Our results illustrate the MRI visualization of ovarian cysts in utero. In most cases, MRI will confirm the US diagnosis. In certain cases, MRI may provide further diagnostic information, additional to US, which is the standard technique for diagnosis, monitoring, and treatment planning.

Ovarian cysts on prenatal MRI

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Nemec, Ursula [Department of Radiology, Division of Neuroradiology and Musculoskeletal Radiology, Medical University Vienna, Waehringer Guertel 18-20, A-1090 Vienna (Austria); Nemec, Stefan F., E-mail: stefan.nemec@meduniwien.ac.at [Department of Radiology, Division of Neuroradiology and Musculoskeletal Radiology, Medical University Vienna, Waehringer Guertel 18-20, A-1090 Vienna (Austria); Medical Genetics Institute, Cedars Sinai Medical Center, 8700 Beverly Boulevard, PACT Suite 400, Los Angeles, CA 90048 (United States); Bettelheim, Dieter [Department of Obstetrics and Gynaecology, Division of Prenatal Diagnosis and Therapy, Medical University Vienna, Waehringer Guertel 18-20, A-1090 Vienna (Austria); Brugger, Peter C. [Center of Anatomy and Cell Biology, Integrative Morphology Group, Medical University Vienna, Waehringerstrasse 13, A-1090 Vienna (Austria); Horcher, Ernst [Department of Pediatric Surgery, Medical University Vienna, Waehringer Guertel 18-20, A-1090 Vienna (Austria); Schoepf, Veronika [Department of Radiology, Division of Neuroradiology and Musculoskeletal Radiology, Medical University Vienna, Waehringer Guertel 18-20, A-1090 Vienna (Austria); Graham, John M.; Rimoin, David L. [Medical Genetics Institute, Cedars Sinai Medical Center, 8700 Beverly Boulevard, PACT Suite 400, Los Angeles, CA 90048 (United States); Weber, Michael; Prayer, Daniela [Department of Radiology, Division of Neuroradiology and Musculoskeletal Radiology, Medical University Vienna, Waehringer Guertel 18-20, A-1090 Vienna (Austria)

2012-08-15

Objective: Ovarian cysts are the most frequently encountered intra-abdominal masses in females in utero. They may, at times, require perinatal intervention. Using magnetic resonance imaging (MRI) as an adjunct to ultrasonography (US) in prenatal diagnosis, we sought to demonstrate the ability to visualize ovarian cysts on prenatal MRI. Materials and methods: This retrospective study included 17 fetal MRI scans from 16 female fetuses (23-37 gestational weeks) with an MRI diagnosis of ovarian cysts after suspicious US findings. A multiplanar MRI protocol was applied to image and to characterize the cysts. The US and MRI findings were compared, and the prenatal findings were compared with postnatal imaging findings or histopathology. Results: Simple ovarian cysts were found in 10/16 cases and complex cysts in 7/16 cases, including one case with both. In 11/16 (69%) cases, US and MRI diagnoses were in agreement, and, in 5/16 (31%) cases, MRI specified or expanded the US diagnosis. In 6/16 cases, postnatal US showed that the cysts spontaneously resolved or decreased in size, and in 1/16 cases, postnatal imaging confirmed a hemorrhagic cyst. In 4/16 cases, the prenatal diagnoses were confirmed by surgery/histopathology, and for the rest, postnatal correlation was not available. Conclusion: Our results illustrate the MRI visualization of ovarian cysts in utero. In most cases, MRI will confirm the US diagnosis. In certain cases, MRI may provide further diagnostic information, additional to US, which is the standard technique for diagnosis, monitoring, and treatment planning.

Prenatal zinc prevents communication impairments and BDNF disturbance in a rat model of autism induced by prenatal lipopolysaccharide exposure.

Science.gov (United States)

Kirsten, Thiago B; Queiroz-Hazarbassanov, Nicolle; Bernardi, Maria M; Felicio, Luciano F

2015-06-01

Aims: Previous investigations by our group have shown that prenatal exposure to lipopolysaccharide (LPS),which mimics infections by Gram-negative bacteria, induced autistic-like behavior. No effective treatment yet exists for autism. Therefore, we used our rat model to test a possible treatment for autism.We selected zinc as the prenatal treatment to prevent or ease the impairments induced by LPS because LPS induces hypozincaemia.Materials and methods:We evaluated the effects of LPS and zinc on female reproductive performance. Communication,which is impaired in autism,was tested in pups by ultrasonic vocalizations. Plasma levels of brain-derived neurotrophic factor (BDNF) were determined because it has been considered an autism important biomarker.Key findings: Prenatal LPS exposure reduced offspring number and treatment with zinc prevented this reduction.Moreover, pups that were prenatally exposed to LPS spent longer periods without calling their mothers, and posttreatment with zinc prevented this impairment induced by LPS to the same levels as controls. Prenatal LPS also increased BDNF levels in adult offspring, and posttreatment with zinc reduced the elevation of BDNF to the same levels as controls.Significance: BDNF hyperactivity was also found in several studies of autistic patients. Together with our previous studies, our model of prenatal LPS induced autistic-like behavioral, brain, and immune disturbances. This suggests that it is a valid rat model of autism. Prenatal zinc prevented reproductive, communication, and BDNF impairments.The present study revealed a potential beneficial effect of prenatal zinc administration for the prevention of autism with regard to the BDNF pathway.

Trends in cytogenetic testing and identification of chromosomal abnormalities among pregnancies and children with birth defects, metropolitan Atlanta, 1968-2005.

Science.gov (United States)

Jackson, Jodi M; Crider, Krista S; Rasmussen, Sonja A; Cragan, Janet D; Olney, Richard S

2012-01-01

The purpose of this study was to examine changes in the use of cytogenetic testing and identification of chromosomal abnormalities among pregnancies and children with birth defects. Utilizing data from 1968 to 2005 from the Metropolitan Atlanta Congenital Defects Program, we analyzed trends in the frequency and timing (prenatal or postnatal) of cytogenetic testing and the prevalence of recognized chromosome abnormalities among pregnancies and children with birth defects (n = 51,424). Cytogenetic testing of pregnancies and children with birth defects increased from 7.2% in 1968 to 25.0% in 2005, as did the identification of chromosomal abnormalities (2.2% in 1968 to 6.8% in 2005). The use of prenatal cytogenetic testing decreased from 1996 to 2005 among women aged ≥35 years. Identification of chromosomal abnormalities in pregnancies and children with birth defects increased from 1968 to 2005, possibly due to increased testing, improved diagnostic techniques, or increasing maternal age. The decline in prenatal cytogenetic testing observed among mothers aged ≥35 years may be related to the availability of improved prenatal screening techniques, resulting in a reduction in the utilization of invasive diagnostic tests. Published 2011 Wiley Periodicals, Inc. This article is a U.S. Government work and is in the public domain in the USA.

Prenatal and Postnatal Medical Conditions and the Risk of Brain Tumors in Children and Adolescents

DEFF Research Database (Denmark)

Tettamanti, Giorgio; Shu, Xiaochen; Adel Fahmideh, Maral

2017-01-01

BACKGROUND: Previous studies have evaluated the effect of medical diagnostic radiation on brain tumors. Recent cohort studies have reported an increased risk associated with exposure to head CT scans. METHODS: Information regarding medical conditions, including prenatal and postnatal exposure...... to medical diagnostic radiation, was obtained from CEFALO, a multicenter case-control study performed in Denmark, Norway, Sweden, and Switzerland through face-to-face interview. Eligible cases of childhood and adolescent brain tumors (CABT) were ages 7 to 19 years, diagnosed between January 1, 2004...... and August 31, 2008, and living in the participating countries (n = 352). The cases were matched by age, sex, and region to 646 population-based controls. RESULTS: Prenatal exposure to medical diagnostic radiation and postnatal exposure to X-rays were not associated with CABTs. A higher risk estimate...

Non-invasive prenatal testing for trisomies 21, 18 and 13

DEFF Research Database (Denmark)

Zhang, H.; Gao, Y.; Jiang, F.

2015-01-01

OBJECTIVES: To report the clinical performance of massively parallel sequencing-based non-invasive prenatal testing (NIPT) in detecting trisomies 21, 18 and 13 in over 140 000 clinical samples and to compare its performance in low-risk and high-risk pregnancies. METHODS: Between 1 January 2012...... samples, for which outcome data were available in 112 669 (76.7%). Repeat blood sampling was required in 3213 cases and 145 had test failure. Aneuploidy was confirmed in 720/781 cases positive for trisomy 21, 167/218 cases positive for trisomy 18 and 22/67 cases positive for trisomy 13 on NIPT. Nine false...... difference in test performance between the 72 382 high-risk and 40 287 low-risk subjects (sensitivity, 99.21% vs 98.97% (P = 0.82); specificity, 99.95% vs 99.95% (P = 0.98)). The major factors contributing to false-positive and false-negative NIPT results were maternal copy number variant and fetal...

[Prenatal genetic counseling and instruction for deaf families by genetic test].

Science.gov (United States)

Han, Ming-yu; Huang, Sha-sha; Wang, Guo-jian; Yuan, Yong-yi; Kang, Dong-yang; Zhang, Xin; Dai, Pu

2011-11-01

Analyzed the molecular pathogenesis of probands by means of genetic test and assisted the local Family Planning Institute by providing prenatal genetic counseling and instruction for deaf families who eager to have more baby. Total of forty-three deaf families were recruited by two institutes for family planning from Guangzhou and Weifang. Forty-two families had one deaf child with normal hearing parents. One family was that parents and their child were all deaf. Genetic testing of GJB2, SLC26A4 and mitochondrial DNA (mtDNA) 12SrRNA were firstly performed in probands and their parents, following medical history, physical examination, auditory test and CT scan of temporal bone were completed. And then the genetic information and instruction were provided to each deaf family. Fifteen of these 43 families had positive results of genetic test. In fifteen families, one family was confirmed that the parents and their child all carried homozygous GJB2 mutations and the recurrence risk was 100%. Twelve families were confirmed that the probands carried homozygous/compound GJB2 or SLC26A4 mutations while their parents were GJB2 or SLC26A4 carriers, and the recurrence risk was 25%. One family was confirmed that the proband, diagnosed with enlarged vestibular aqueduct syndrome (EVAS) by CT scan, carried heterozygous SLC26A4 mutation from the mother, and the recurrence risk was still 25% based on the hereditary pattern of EVAS although another SLC26A4 mutation from the father was not found. One family was confirmed that the proband carried a heterozygous GJB2 mutation from the mother and the possibility to be GJB2 carrier for offsprings was 50%. The rest 28 families were that all probands and their parents did not carry GJB2, SLC26A4 and mtDNA 12SrRNA pathological mutation. Genetic testing can provide more accurate and useful prenatal genetic counseling and instruction to deaf families. Meanwhile, it is an ideal way to develop a cooperative relationship with the institute for

EPIDEMIOLOGIC CHARACTERISTICS AND IMMUNOLOGICAL ASPECTS OF PRENATAL INFECTION

Directory of Open Access Journals (Sweden)

T. I. Dolgih

2012-01-01

Full Text Available Abstract. To improve diagnostics of prenatal infections the basic obstetrics indices in Omsk region in the period of 2000–2010 years have been analyzed. It was found that perinatal mortality reduced 2.5 times (from 14.5 till 5.7 per 1000 newborns as well as neonatal mortality (from 6.5 till 0.9 per 1000 newborns. The laboratory testing of 187 newborns (85 pairs mother-newborn revealed monoinfection in 24% of cases and mixed infection in 7% of cases with predomination of herpes viruses (HHV-6, CMV, EBV, HSV1,2. Newborns with manifested infections had increased number of cytotoxic T-cells, intensive expression of HLA-DR antigens on monocytes and IL-8 chemokine increased production.

Prenatal diagnosis of meconium ileus and meconium peritonitis: Indications for cystic fibrosis testing

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Egić Amira

2011-01-01

Full Text Available Introduction. More recently, the regions of increased abdominal echogenicity such as echogenic bowel, meconium ileus and meconium peritonitis have been associated with an increased prevalence of a variety of unfavourable outcomes including chromosomal abnormalities, cytomegalovirus infection, intestinal obstruction, anorectal malformations and cystic fibrosis. Earlier prenatal examinations of these severe autosomal recessive diseases had been suggested only to families with history of cystic fibrosis. Recently, systemic examination has been introduced by ultrasound with bowel hyperechogenicity where the fetus is the index case for genetic disease. Risk for cystic fibrosis with this ultrasonography findings ranges from 0-33%. Outline of Cases. Two patients are presented, aged 24 and 29 years, both primigravide. The first one had ultrasonography finding of meconium peritonitis revealed at the 37th week of gestation and the other meconium ileus revealed on ultrasonography at the 29th week of gestation. Both patients had prenatal testing of foetal blood obtained by cordocenthesis, both had normal kariotype and were negative for cytomegalovirus infection. Parental DNA testing for the 2nd patient showed that parents were not carriers for the 29 most frequent mutations. Both neonates had intestinal obstruction, underwent surgery and early postoperative course was normal. Hystopathological finding suggested a possibility of cystic fibrosis for the 1st patient, but parents did not want to be tested and for the 2nd one congenital bowel stenosis as a cause of intestinal obstruction. Conclusion. Ultrasonographic echogenic bowel is an indication for invasive procedures for foetal blood testing for chromosomal abnormalities, congenital infections and parental testing for cystic fibrosis. Only if parental heterozygosity is proven foetus should be tested.

Is routine karyotyping required in prenatal samples with a molecular or metabolic referral?

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Kooper Angelique JA

2012-01-01

Full Text Available Abstract As a routine, karyotyping of invasive prenatal samples is performed as an adjunct to referrals for DNA mutation detection and metabolic testing. We performed a retrospective study on 500 samples to assess the diagnostic value of this procedure. These samples included 454 (90.8% chorionic villus (CV and 46 (9.2% amniocenteses specimens. For CV samples karyotyping was based on analyses of both short-term culture (STC and long-term culture (LTC cells. Overall, 19 (3.8% abnormal karyotypes were denoted: four with a common aneuploidy (trisomy 21, 18 and 13, two with a sex chromosomal aneuploidy (Klinefelter syndrome, one with a sex chromosome mosaicism and twelve with various autosome mosaicisms. In four cases a second invasive test was performed because of an abnormal finding in the STC. Taken together, we conclude that STC and LTC karyotyping has resulted in a diagnostic yield of 19 (3.8% abnormal cases, including 12 cases (2.4% with an uncertain significance. From a diagnostic point of view, it is desirable to limit uncertain test results as secondary test findings. Therefore, we recommend a more targeted assay, such as e.g. QF-PCR, as a replacement of the STC and to provide parents the autonomy to choose between karyotyping and QF-PCR.

Patient perspectives with abbreviated versus standard pre-test HIV counseling in the prenatal setting: a randomized-controlled, non-inferiority trial.

Science.gov (United States)

Cohan, Deborah; Gomez, Elvira; Greenberg, Mara; Washington, Sierra; Charlebois, Edwin D

2009-01-01

In the US, an unacceptably high percentage of pregnant women do not undergo prenatal HIV testing. Previous studies have found increased uptake of prenatal HIV testing with abbreviated pre-test counseling, however little is known about patient decision making, testing satisfaction and knowledge in this setting. A randomized-controlled, non-inferiority trial was conducted from October 2006 through February 2008 at San Francisco General Hospital (SFGH), the public teaching hospital of the City and County of San Francisco. A total of 278 English- and Spanish-speaking pregnant women were randomized to receive either abbreviated or standard nurse-performed HIV test counseling at the initial prenatal visit. Patient decision making experience was compared between abbreviated versus standard HIV counseling strategies among a sample of low-income, urban, ethnically diverse prenatal patients. The primary outcome was the decisional conflict score (DCS) using O'Connor low-literacy scale and secondary outcomes included satisfaction with test decision, basic HIV knowledge and HIV testing uptake. We conducted an intention-to-treat analysis of 278 women--134 (48.2%) in the abbreviated arm (AA) and 144 (51.8%) in the standard arm (SA). There was no significant difference in the proportion of women with low decisional conflict (71.6% in AA vs. 76.4% in SA, p = .37), and the observed mean difference between the groups of 3.88 (95% CI: -0.65, 8.41) did not exceed the non-inferiority margin. HIV testing uptake was very high (97. 8%) and did not differ significantly between the 2 groups (99.3% in AA vs. 96.5% in SA, p = .12). Likewise, there was no difference in satisfaction with testing decision (97.8% in AA vs. 99.3% in SA, p = .36). However, women in AA had significantly lower mean HIV knowledge scores (78.4%) compared to women in SA (83.7%, pprocess, while associated with slightly lower knowledge, does not compromise patient decision making or satisfaction regarding HIV testing

Maternal Active Mastication during Prenatal Stress Ameliorates Prenatal Stress-Induced Lower Bone Mass in Adult Mouse Offspring.

Science.gov (United States)

Azuma, Kagaku; Ogura, Minori; Kondo, Hiroko; Suzuki, Ayumi; Hayashi, Sakurako; Iinuma, Mitsuo; Onozuka, Minoru; Kubo, Kin-Ya

2017-01-01

Chronic psychological stress is a risk factor for osteoporosis. Maternal active mastication during prenatal stress attenuates stress response. The aim of this study is to test the hypothesis that maternal active mastication influences the effect of prenatal stress on bone mass and bone microstructure in adult offspring. Pregnant ddY mice were randomly divided into control, stress, and stress/chewing groups. Mice in the stress and stress/chewing groups were placed in a ventilated restraint tube for 45 minutes, 3 times a day, and was initiated on day 12 of gestation and continued until delivery. Mice in the stress/chewing group were allowed to chew a wooden stick during the restraint stress period. The bone response of 5-month-old male offspring was evaluated using quantitative micro-CT, bone histomorphometry, and biochemical markers. Prenatal stress resulted in significant decrease of trabecular bone mass in both vertebra and distal femur of the offspring. Maternal active mastication during prenatal stress attenuated the reduced bone formation and increased bone resorption, improved the lower trabecular bone volume and bone microstructural deterioration induced by prenatal stress in the offspring. These findings indicate that maternal active mastication during prenatal stress can ameliorate prenatal stress-induced lower bone mass of the vertebra and femur in adult offspring. Active mastication during prenatal stress in dams could be an effective coping strategy to prevent lower bone mass in their offspring.

Rapid prenatal diagnosis of cytogenetic abnormalities by array CGH analysis

Science.gov (United States)

Array CGH analysis has been shown to be highly accurate for rapid detection of chromosomal aneuploidies and submicroscopic deletions or duplications on fetal DNA samples in a clinical prenatal diagnostic setting. The objective of this study is to present our "post-validation phase" experience with ...

Impact of Cell-Free Fetal DNA Screening on Patients’ Choice of Invasive Procedures after a Positive California Prenatal Screen Result

Directory of Open Access Journals (Sweden)

Forum T. Shah

2014-07-01

Full Text Available Until recently, maternal serum analyte levels paired with sonographic fetal nuchal translucency measurement was the most accurate prenatal screen available for Trisomies 18 and 21, (91% and 94% detection and false positive rates of 0.31% and 4.5% respectively. Women with positive California Prenatal Screening Program (CPSP results have the option of diagnostic testing to determine definitively if the fetus has a chromosomal abnormality. Cell-free fetal (cff- DNA screening for Trisomies 13, 18, and 21 was first offered in 2012, allowing women with positive screens to choose additional screening before diagnostic testing. Cff-DNA sensitivity rates are as high as 99.9% and 99.1%, with false positive rates of 0.4% and 0.1%, for Trisomies 18 and 21, respectively. A retrospective chart review was performed in 2012 on 500 CPSP referrals at the University of California, San Diego Thornton Hospital. Data were collected prior to and after the introduction of cff-DNA. There was a significant increase in the number of participants who chose to pursue additional testing and a decrease in the number of invasive procedures performed after cff-DNA screening was available. We conclude that as fetal aneuploidy screening improves, the number of invasive procedures will continue to decrease.

Noninvasive prenatal testing (NIPT) in twin pregnancies with treatment of assisted reproductive techniques (ART) in a single center

DEFF Research Database (Denmark)

Tan, YueQiu; Gao, Ya; Lin, Ge

2016-01-01

Objective: The objective of the study is to report the performance of noninvasive prenatal testing (NIPT) in twin pregnancies after the treatment of assisted reproductive technology (ART). Method: In two years period, 565 pregnant women with ART twin pregnancies were prospectively tested by NIPT...

Non-invasive prenatal testing for aneuploidy and beyond

DEFF Research Database (Denmark)

Dondorp, Wybo; de Wert, Guido; Bombard, Yvonne

2015-01-01

following sound validation studies and a comprehensive evaluation of all relevant aspects. A further core message of this document is that in countries where prenatal screening is offered as a public health programme, governments and public health authorities should adopt an active role to ensure...

An Overview on Prenatal Screening for Chromosomal Aberrations.

Science.gov (United States)

Hixson, Lucas; Goel, Srishti; Schuber, Paul; Faltas, Vanessa; Lee, Jessica; Narayakkadan, Anjali; Leung, Ho; Osborne, Jim

2015-10-01

This article is a review of current and emerging methods used for prenatal detection of chromosomal aneuploidies. Chromosomal anomalies in the developing fetus can occur in any pregnancy and lead to death prior to or shortly after birth or to costly lifelong disabilities. Early detection of fetal chromosomal aneuploidies, an atypical number of certain chromosomes, can help parents evaluate their pregnancy options. Current diagnostic methods include maternal serum sampling or nuchal translucency testing, which are minimally invasive diagnostics, but lack sensitivity and specificity. The gold standard, karyotyping, requires amniocentesis or chorionic villus sampling, which are highly invasive and can cause abortions. In addition, many of these methods have long turnaround times, which can cause anxiety in mothers. Next-generation sequencing of fetal DNA in maternal blood enables minimally invasive, sensitive, and reasonably rapid analysis of fetal chromosomal anomalies and can be of clinical utility to parents. This review covers traditional methods and next-generation sequencing techniques for diagnosing aneuploidies in terms of clinical utility, technological characteristics, and market potential. © 2015 Society for Laboratory Automation and Screening.

  Information and acceptance of prenatal examinations - a qualitative study

DEFF Research Database (Denmark)

Fleron, Stina Lou; Dahl, Katja; Risør, Mette Bech

by the health care system offering it. By prenatal examinations the pregnant women want to be giving the choice of future management should there be something wrong with their child. Conclusions:Participation in prenatal examinations is not based on a thorough knowledge of pros and contra of the screening tests......  Background:In 2004 The Danish National Board of Health issued new guidelines on prenatal examinations. The importance of informed decision making is strongly emphasised and any acceptance of the screenings tests offered should be based on thorough and adequate information. Objective...... and hypothesis:To explore the influence of information in the decision-making process of prenatal screenings tests offered, the relation between information, knowledge and up-take rates and reasons for accepting or declining the screenings tests offered.  Methods:The study is based on a qualitative approach...

Evaluating Diagnostic Point-of-Care Tests in Resource-Limited Settings

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Drain, Paul K; Hyle, Emily P; Noubary, Farzad; Freedberg, Kenneth A; Wilson, Douglas; Bishai, William; Rodriguez, William; Bassett, Ingrid V

2014-01-01

Diagnostic point-of-care (POC) testing is intended to minimize the time to obtain a test result, thereby allowing clinicians and patients to make an expeditious clinical decision. As POC tests expand into resource-limited settings (RLS), the benefits must outweigh the costs. To optimize POC testing in RLS, diagnostic POC tests need rigorous evaluations focused on relevant clinical outcomes and operational costs, which differ from evaluations of conventional diagnostic tests. Here, we reviewed published studies on POC testing in RLS, and found no clearly defined metric for the clinical utility of POC testing. Therefore, we propose a framework for evaluating POC tests, and suggest and define the term “test efficacy” to describe a diagnostic test’s capacity to support a clinical decision within its operational context. We also proposed revised criteria for an ideal diagnostic POC test in resource-limited settings. Through systematic evaluations, comparisons between centralized diagnostic testing and novel POC technologies can be more formalized, and health officials can better determine which POC technologies represent valuable additions to their clinical programs. PMID:24332389

Barriers to adequate prenatal care utilization in American Samoa

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Hawley, Nicola L; Brown, Carolyn; Nu’usolia, Ofeira; Ah-Ching, John; Muasau-Howard, Bethel; McGarvey, Stephen T

2013-01-01

Objective To describe the utilization of prenatal care in American Samoan women and to identify socio-demographic predictors of inadequate prenatal care utilization. Methods Using data from prenatal clinic records, women (n=692) were categorized according to the Adequacy of Prenatal Care Utilization Index as having received adequate plus, adequate, intermediate or inadequate prenatal care during their pregnancy. Categorical socio-demographic predictors of the timing of initiation of prenatal care (week of gestation) and the adequacy of received services were identified using one way Analysis of Variance (ANOVA) and independent samples t-tests. Results Between 2001 and 2008 85.4% of women received inadequate prenatal care. Parity (P=0.02), maternal unemployment (P=0.03), and both parents being unemployed (P=0.03) were negatively associated with the timing of prenatal care initation. Giving birth in 2007–2008, after a prenatal care incentive scheme had been introduced in the major hospital, was associated with earlier initiation of prenatal care (20.75 versus 25.12 weeks; Pprenatal care utilization in American Samoa is a major concern. Improving healthcare accessibility will be key in encouraging women to attend prenatal care. The significant improvements in the adequacy of prenatal care seen in 2007–2008 suggest that the prenatal care incentive program implemented in 2006 may be a very positive step toward addressing issues of prenatal care utilization in this population. PMID:24045912

Family health strategy and equity in prenatal care: a population based cross-sectional study in Minas Gerais, Brazil.

Science.gov (United States)

Andrade, Mônica Viegas; Noronha, Kenya Valéria Micaela de Souza; Queiroz Barbosa, Allan Claudius; Souza, Michelle Nepomuceno; Calazans, Júlia Almeida; Carvalho, Lucas Resende de; Rocha, Thiago Augusto Hernandes; Silva, Núbia Cristina

2017-01-21

Prenatal care coverage is still not universal or adequately provided in many low and middle income countries. One of the main barriers regards the presence of socioeconomic inequalities in prenatal care utilization. In Brazil, prenatal care is supplied for the entire population at the community level as part of the Family Health Strategy (FHS), which is the main source of primary care provided by the public health system. Brazil has some of the greatest income inequalities in the world, and little research has been conducted to investigate prenatal care utilization of FHS across socioeconomic groups. This paper addresses this gap investigating the socioeconomic and regional differences in the utilization of prenatal care supplied by the FHS in the state of Minas Gerais, Brazil. Data comes from a probabilistic household survey carried out in 2012 representative of the population living in urban areas in the state of Minas Gerais. The sample size comprises 1,420 women aged between 13 and 45 years old who had completed a pregnancy with a live born in the last five years prior to the survey. The outcome variables are received prenatal care, number of antenatal visits, late prenatal care, antenatal tests, tetanus immunization and low birthweight. A descriptive analysis and logistic models were estimated for the outcome variables. The coverage of prenatal care is almost universal in catchment urban areas of FHT of Minas Gerais state including both antenatal visits and diagnostic procedures. Due to this high level of coverage, socioeconomic inequalities were not observed. FHS supplied care for around 80% of the women without private insurance and 90% for women belonging to lower socioeconomic classes. Women belonging to lower socioeconomic classes were at least five times more likely to receive antenatal visits and any of the antenatal tests by the FHS compared to those belonging to the highest classes. Moreover, FHS was effective in reducing low birthweight. Women who

[Diagnostic test scale SI5: Assessment of sacroiliac joint dysfunction].

Science.gov (United States)

Acevedo González, Juan C; Quintero Oliveros, Silvia

2015-01-01

Sacroiliac joint dysfunction is a known cause of low back pain. We think that a diagnostic score scale (SI5) may be performed to assess diagnostic utility of clinical signs of sacroiliac joint dysfunction. The primary aim of the present study was to conduct the pilot study of our new diagnostic score scale, the SI5, for sacroiliac joint syndrome. We reviewed the literature on clinical characteristics, diagnostic tests and imaging most commonly used in diagnosing sacroiliac joint dysfunction. Our group evaluated the diagnostic utility of these aspects and we used those considered most representative to develop the SI5 diagnostic scale. The SI5 scale was applied to 22 patients with low back pain; afterwards, the standard test for diagnosing this pathology (selective blockage of the SI joint) was also performed on these patients. The sensitivity and specificity for each sign were also assessed and the diagnostic scale called SI5 was then proposed, based on these data. The most sensitive clinical tests for diagnosing SI joint dysfunction were 2 patient-reported clinical characteristics, the Laguerre Test, sacroiliac rocking test and Yeomans test (greater than 80% sensitivity). The tests with greatest diagnostic specificity (>80%) were the Lewitt test, Piedallu test and Gillet test. The proposed SI5 test score scale showed sensitivity of 73% and specificity of 71%. Sacroiliac joint syndrome has been shown to produce low back pain frequently; however, the diagnostic value of examination tests for sacroiliac joint pain has been questioned by other authors. The pilot study on the SI5 diagnostic score scale showed good sensitivity and specificity. However, the process of statistical validation of the SI5 needs to be continued. Copyright © 2014 Sociedad Española de Neurocirugía. Published by Elsevier España. All rights reserved.

Systematic reviews of diagnostic test accuracy

DEFF Research Database (Denmark)

Leeflang, Mariska M G; Deeks, Jonathan J; Gatsonis, Constantine

2008-01-01

More and more systematic reviews of diagnostic test accuracy studies are being published, but they can be methodologically challenging. In this paper, the authors present some of the recent developments in the methodology for conducting systematic reviews of diagnostic test accuracy studies....... Restrictive electronic search filters are discouraged, as is the use of summary quality scores. Methods for meta-analysis should take into account the paired nature of the estimates and their dependence on threshold. Authors of these reviews are advised to use the hierarchical summary receiver...

Factors associated with continuing emergence of β-thalassemia major despite prenatal testing: a cross-sectional survey

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Al Sabbah H

2017-09-01

Full Text Available Haleama Al Sabbah,1 Sarah Khan,1 Abdallah Hamadna,2 Lamia Abu Ghazaleh,2 Anwar Dudin,2 Bashar Adnan Karmi3 1College of Natural and Health Sciences, Zayed University, Dubai, UAE; 2Faculty of Medicine, An-Najah National University, Nablus, Palestine; 3Thalassemia Patients’ Friends Society, Ramallah, Palestine Purpose: Health care initiatives focusing on prenatal testing and premarital genetic screening aiming to reduce the incidence of β-thalassemia have emerged during the last decade. In Palestine, 4% of the population are known thalassemia carriers with new cases continuing to appear despite the availability of prenatal testing. This study aims to identify factors that influence the decision to retain or abort fetuses affected by β-thalassemia in Palestine. Methods: Convenience sampling was used to select 32 women (72 fetuses who were at risk of having a baby with β-thalassemia. A questionnaire on prenatal testing, test results, pregnancy outcomes, and factors influencing the decision to terminate the pregnancy were used for this cross-sectional study. The data were analyzed using SPSS version 17. Results: Among the fetuses screened, 36 (50% were thalassemia carriers and 20 (28% had β-thalassemia; 17 (85% affected fetuses were aborted. Religious beliefs were the most cited reason for opposing abortion while prior experience with β-thalassemia patients and awareness programs promoted abortions. Mothers who opted to retain an affected fetus had modest educational attainment. Higher educational level was significantly associated with the decision to abort an affected fetus (p<0.05. Conclusion: A religious consensus is needed on the abortion of fetuses affected by β-thalassemia. Improving female education and increasing awareness on thalassemia could help reduce the incidence of β-thalassemia in Palestine and around the world. Keywords: abortion, Islam, fetus, awareness

Clinical experience of laboratory follow-up with noninvasive prenatal testing using cell-free DNA and positive microdeletion results in 349 cases.

Science.gov (United States)

Schwartz, S; Kohan, M; Pasion, R; Papenhausen, P R; Platt, L D

2018-02-01

Screening via noninvasive prenatal testing (NIPT) involving the analysis of cell-free DNA (cfDNA) from plasma has become readily available to screen for chromosomal and DNA aberrations through maternal blood. This report reviews a laboratory's experience with follow-up of positive NIPT screens for microdeletions. Patients that were screened positive by NIPT for a microdeletion involving 1p, 4p, 5p, 15q, or 22q who underwent diagnostic studies by either chorionic villus sampling or amniocentesis were evaluated. The overall positive predictive value for 349 patients was 9.2%. When a microdeletion was confirmed, 39.3% of the cases had additional abnormal microarray findings. Unrelated abnormal microarray findings were detected in 11.8% of the patients in whom the screen positive microdeletion was not confirmed. Stretches of homozygosity in the microdeletion were frequently associated with a false positive cfDNA microdeletion result. Overall, this report reveals that while cfDNA analysis will screen for microdeletions, the positive predictive value is low; in our series it is 9.2%. Therefore, the patient should be counseled accordingly. Confirmatory diagnostic microarray studies are imperative because of the high percentage of false positives and the frequent additional abnormalities not delineated by cfDNA analysis. © 2018 John Wiley & Sons, Ltd.

A prenatally detected adrenal cyst treated by adrenal-sparing surgery

African Journals Online (AJOL)

A neonatal case of left adrenal cyst detected in utero and successfully treated by adrenal-sparing surgery is presented and discussed with review of the literature. Incidentally discovered prenatal adrenal masses present a diagnostic dilemma. Benign and malignant conditions can present as a fetal suprarenal mass. There is ...

FUNCTIONALLY UNIVENTRICULAR HEARTS: IMPACT OF PRE-NATAL DIAGNOSIS

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Antonio Francesco Corno

2015-02-01

Full Text Available Within the last few decades the pre-natal echocardiographic diagnosis of congenital heart defects has made substantial progresses, particularly for the identification of complex malformation. Functionally univentricular hearts categorize a huge variety of heart malformations. Since no one of the patients with these congenital heart defects can ever undergo a bi-ventricular type of repair, early recognition and decision-making from the neonatal period are required in order to allow for appropriate multiple-step diagnostic and treatment procedures, either of interventional cardiology and/or surgery, on the pathway of univentricular heart. In the literature strong disagreements exist about the potential impact of the pre-natal diagnosis on the early and late outcomes of complex congenital heart defects. This review of the recent reports has been undertaken to better understand the impact of pre-natal diagnosis in functionally univentricular hearts taking into consideration the following topics:•pre-natal screening•outcomes and survival•general morbidity•neurologic and developmental consequences•pregnancy management and delivery planning•resources utilization and costs/benefits issues•ethical implications, parents counseling, interruption of pregnancy versus treatment

Choosing offspring: prenatal genetic testing for thalassaemia and the production of a ‘saviour sibling’ in China

NARCIS (Netherlands)

Sui, S.

2010-01-01

This paper focuses on the pre-natal genetic testing and reproductive decision-making around thalassaemia in China. Findings are based on fieldwork conducted in hospitals and research institutions, interviews with families with thalassaemia-affected children, interviews with geneticists and genetic

Use of a decision aid for prenatal testing of fetal abnormalities to improve women's informed decision making: a cluster randomised controlled trial [ISRCTN22532458].

Science.gov (United States)

Nagle, C; Gunn, J; Bell, R; Lewis, S; Meiser, B; Metcalfe, S; Ukoumunne, O C; Halliday, J

2008-02-01

To evaluate the effectiveness of a decision aid for prenatal testing of fetal abnormalities compared with a pamphlet in supporting women's decision making. A cluster randomised controlled trial. Primary health care. Women in early pregnancy consulting a GP. GPs were randomised to provide women with either a decision aid or a pamphlet. The decision aid was a 24-page booklet designed using the Ottowa Decision Framework. The pamphlet was an existing resource available in the trial setting. Validated scales were used to measure the primary outcomes, informed choice and decisional conflict, and the secondary outcomes, anxiety, depression, attitudes to the pregnancy/fetus and acceptability of the resource. Outcomes were measured at 14 weeks of gestation from questionnaires that women completed and returned by post. Women in the intervention group were more likely to make an informed decision 76% (126/165) than those in the control group 65% (107/165) (adjusted OR 2.08; 95% CI 1.14-3.81). A greater proportion of women in the intervention group 88% (147/167) had a 'good' level of knowledge than those in the control group 72% (123/171) (adjusted OR 3.43; 95% CI 1.79-6.58). Mean (SD) decisional conflict scores were low in both groups, decision aid 1.71 (0.49), pamphlet 1.65 (0.55) (adjusted mean difference 0.10; 95% CI -0.02 to 0.22). There was no strong evidence of differences between the trial arms in the measures of psychological or acceptability outcomes. A tailored prenatal testing decision aid plays an important role in improving women's knowledge of first and second trimester screening tests and assisting them to make decisions about screening and diagnostic tests that are consistent with their values.

Current problems regarding abortion, prenatal genetic testing and managing pregnancy

Directory of Open Access Journals (Sweden)

Klajn-Tatić Vesna

2011-01-01

Full Text Available Current ethical and legal issues with regard to abortion, prenatal genetic testing and managing pregnancy are discussed in this paper. These problems are considered from the legal theory point of view as well as from the standpoint of the Serbian Law, the European Convention for the Protection of Human Rights and Fundamental Freedoms, European Court of Human Rights, legal regulations of several EU countries, the USA, Japan, and their judicial practice. First, the pregnancy termination standards that exist in Serbia are introduced. Then the following issues are explained separately: the pro life and pro choice approaches to abortion; abortion according to the legal approach as a way of survival; the moral and legal status of the fetus; prenatal genetic testing, and finally matters regarding managing pregnancy today. Moral and legal principals of autonomy, namely freedom of choice of the individual, privacy and self-determination give women the right to terminate unwanted pregnancies. In addition, the basic question is whether the right of the woman to abortion clashes with the rights of others. Firstly, with the right of the "fetus to life". Secondly, with the right of the state to intervene in the interest of protecting "the life of the fetus". Third, with the rights of the woman’s partner. The fetus has the moral right to life, but less in relation to the same right of the woman as well as in relation to her right to control her life and her physical and moral integrity. On the other hand, the value of the life of the fetus increases morally and legally with the maturity of gestation; from the third trimester, the interest of the state prevails in the protection of the "life of the fetus" except when the life or health of the pregnant woman are at risk. As regards the rights of the woman’s partner, namely the husband’s opinion, there is no legal significance. The law does not request his participation in the decision on abortion because

Informed Decision-Making in the Context of Prenatal Chromosomal Microarray.

Science.gov (United States)

Baker, Jessica; Shuman, Cheryl; Chitayat, David; Wasim, Syed; Okun, Nan; Keunen, Johannes; Hofstedter, Renee; Silver, Rachel

2018-03-07

The introduction of chromosomal microarray (CMA) into the prenatal setting has involved considerable deliberation due to the wide range of possible outcomes (e.g., copy number variants of uncertain clinical significance). Such issues are typically discussed in pre-test counseling for pregnant women to support informed decision-making regarding prenatal testing options. This research study aimed to assess the level of informed decision-making with respect to prenatal CMA and the factor(s) influencing decision-making to accept CMA for the selected prenatal testing procedure (i.e., chorionic villus sampling or amniocentesis). We employed a questionnaire that was adapted from a three-dimensional measure previously used to assess informed decision-making with respect to prenatal screening for Down syndrome and neural tube defects. This measure classifies an informed decision as one that is knowledgeable, value-consistent, and deliberated. Our questionnaire also included an optional open-ended question, soliciting factors that may have influenced the participants' decision to accept prenatal CMA; these responses were analyzed qualitatively. Data analysis on 106 participants indicated that 49% made an informed decision (i.e., meeting all three criteria of knowledgeable, deliberated, and value-consistent). Analysis of 59 responses to the open-ended question showed that "the more information the better" emerged as the dominant factor influencing both informed and uninformed participants' decisions to accept prenatal CMA. Despite learning about the key issues in pre-test genetic counseling, our study classified a significant portion of women as making uninformed decisions due to insufficient knowledge, lack of deliberation, value-inconsistency, or a combination of these three measures. Future efforts should focus on developing educational approaches and counseling strategies to effectively increase the rate of informed decision-making among women offered prenatal CMA.

Postnatal development of rat pups is altered by prenatal methamphetamine exposure.

Science.gov (United States)

Slamberová, Romana; Pometlová, Marie; Charousová, Petra

2006-01-01

There are studies showing that drug abuse during pregnancy may have impairing effect on progeny of drug-abusing mothers. Methamphetamine (MA) is one of the most common illicit drugs throughout the world. The purpose of the present study was to assess the effect of prenatal MA exposure on postnatal development of rat pups before the time of separation from their mothers. Female rats were injected with MA (5 mg/kg daily) for the duration of their pregnancy. Pups were then tested throughout the lactation period. They were weighed daily and the ano-genital distance was measured on postnatal day (PD) 1. Development of postural motor reaction was tested by righting reflex on surface between PD 1 and 12, and righting reflex in mid-air after PD 12 until successfully accomplished. On PD 15 homing test was examined as a test of pup acute learning. On PD 23 sensory-motor coordination was examined using the rotarod and bar-holding tests. Additionally, the markers of physical maturation, such as eye opening, testes descent in males and vaginal opening in females were also recorded. The birth weight in prenatally MA-exposed pups was lower than in controls or saline-exposed pups regardless of sex. There were no changes induced by prenatal MA exposure in weight gain or in sexual maturation. In righting reflexes, we demonstrated that pups exposed prenatally to MA were slower in righting reflex on surface and that they accomplished the test of righting reflex in mid-air later than controls or saline-exposed pups. The performance of homing test was not affected by prenatal drug exposure. The sensory-motor coordination was impaired in prenatally MA-exposed pups when testing in the rotarod test. Also, the number of falls in the bar-holding test was higher in MA-exposed pups than in controls. There were no sex differences in any measures. Thus, the present study demonstrated that prenatal MA exposure impairs development of postural motor movements of rat pups during the first 3 weeks

"I think we've got too many tests!": Prenatal providers' reflections on ethical and clinical challenges in the practice integration of cell-free DNA screening.

Science.gov (United States)

Gammon, B L; Kraft, S A; Michie, M; Allyse, M

2016-01-01

The recent introduction of cell-free DNA-based non-invasive prenatal screening (cfDNA screening) into clinical practice was expected to revolutionize prenatal testing. cfDNA screening for fetal aneuploidy has demonstrated higher test sensitivity and specificity for some conditions than conventional serum screening and can be conducted early in the pregnancy. However, it is not clear whether and how clinical practices are assimilating this new type of testing into their informed consent and counselling processes. Since the introduction of cfDNA screening into practice in 2011, the uptake and scope have increased dramatically. Prenatal care providers are under pressure to stay up to date with rapidly changing cfDNA screening panels, manage increasing patient demands, and keep up with changing test costs, all while attempting to use the technology responsibly and ethically. While clinical literature on cfDNA screening has shown benefits for specific patient populations, it has also identified significant misunderstandings among providers and patients alike about the power of the technology. The unique features of cfDNA screening, in comparison to established prenatal testing technologies, have implications for informed decision-making and genetic counselling that must be addressed to ensure ethical practice. This study explored the experiences of prenatal care providers at the forefront of non-invasive genetic screening in the United States to understand how this testing changes the practice of prenatal medicine. We aimed to learn how the experience of providing and offering this testing differs from established prenatal testing methodologies. These differences may necessitate changes to patient education and consent procedures to maintain ethical practice. We used the online American Congress of Obstetricians and Gynecologists Physician Directory to identify a systematic sample of five prenatal care providers in each U.S. state and the District of Columbia. Beginning

Noninvasive prenatal diagnosis for single gene disorders.

Science.gov (United States)

Allen, Stephanie; Young, Elizabeth; Bowns, Benjamin

2017-04-01

Noninvasive prenatal diagnosis for single gene disorders is coming to fruition in its clinical utility. The presence of cell-free DNA in maternal plasma has been recognized for many years, and a number of applications have developed from this. Noninvasive prenatal diagnosis for single gene disorders has lagged behind due to complexities of technology development, lack of investment and the need for validation samples for rare disorders. Publications are emerging demonstrating a variety of technical approaches and feasibility of clinical application. Techniques for analysis of cell-free DNA including digital PCR, next-generation sequencing and relative haplotype dosage have been used most often for assay development. Analysis of circulating fetal cells in the maternal blood is still being investigated as a viable alternative and more recently transcervical trophoblast cells. Studies exploring ethical and social issues are generally positive but raise concerns around the routinization of prenatal testing. Further work is necessary to make testing available to all patients with a pregnancy at risk of a single gene disorder, and it remains to be seen if the development of more powerful technologies such as isolation and analysis of single cells will shift the emphasis of noninvasive prenatal diagnosis. As testing becomes possible for a wider range of conditions, more ethical questions will become relevant.

Patterns of the utilization of prenatal diagnosis services among pregnant women, their satisfaction and its associated factors in Viet Nam.

Science.gov (United States)

Doan, Duong Thi Thuy; Nguyen, Huong Thi Thu; Bui, Ha Thi Thu

2017-02-01

This study aimed at understanding the patterns of the utilization of prenatal diagnostic (PND) services among pregnant women, their satisfaction and its associated factors at three regional prenatal diagnostic centres in Viet Nam. A cross-sectional design was used, with a consecutive sampling method to recruit pregnant women who used PND services at the three biggest regional PND services centres in Viet Nam between January and June, 2014. A total of 298 participants, about 100 participants per centre were interviewed and included in data analysis. Descriptive analyses and logistic regression methods were applied to identify association between satisfaction of women and their socio-economic characteristics. 80% of pregnant women received counselling on PND services, whilst 90% received ultrasonography services; 65.4% were satisfied with the PND services they used. Pregnant women, who were in a lower income group and received counselling but did not receive ultrasonography, were more likely to have higher satisfaction levels of PND services. A process to ensure that every pregnant woman receives sufficient PND counselling before and after receiving PND testing must be given careful and thorough consideration.

Prenatal Stress as a Risk-and an Opportunity-Factor.

Science.gov (United States)

Hartman, Sarah; Freeman, Sara M; Bales, Karen L; Belsky, Jay

2018-04-01

Two separate lines of research indicate (a) that prenatal stress is associated with heightened behavioral and physiological reactivity and (b) that these postnatal phenotypes are associated with increased susceptibility to both positive and negative developmental experiences. Therefore, prenatal stress may increase sensitivity to the rearing environment. We tested this hypothesis by manipulating prenatal stress and rearing-environment quality, using a cross-fostering paradigm, in prairie voles. Results showed that prenatally stressed voles, as adults, displayed the highest behavioral and physiological reactivity when cross-fostered to low-contact (i.e., low-quality) rearing but the lowest behavioral and physiological reactivity when cross-fostered to high-contact (i.e., high-quality) rearing; non-prenatally stressed voles showed no effect of rearing condition. Additionally, while neither prenatal stress nor rearing condition affected oxytocin receptor binding, prenatally stressed voles cross-fostered to high-contact rearing showed the highest vasopressin-1a receptor binding in the amygdala. Results indicate that prenatal stress induces greater environmental sensitivity, making it both a risk and an opportunity factor.

Understanding the properties of diagnostic tests - Part 2: Likelihood ratios.

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Ranganathan, Priya; Aggarwal, Rakesh

2018-01-01

Diagnostic tests are used to identify subjects with and without disease. In a previous article in this series, we examined some attributes of diagnostic tests - sensitivity, specificity, and predictive values. In this second article, we look at likelihood ratios, which are useful for the interpretation of diagnostic test results in everyday clinical practice.

Prenatal chromosomal microarray analysis in fetuses with congenital heart disease: a prospective cohort study.

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Wang, Yan; Cao, Li; Liang, Dong; Meng, Lulu; Wu, Yun; Qiao, Fengchang; Ji, Xiuqing; Luo, Chunyu; Zhang, Jingjing; Xu, Tianhui; Yu, Bin; Wang, Leilei; Wang, Ting; Pan, Qiong; Ma, Dingyuan; Hu, Ping; Xu, Zhengfeng

2018-02-01

Currently, chromosomal microarray analysis is considered the first-tier test in pediatric care and prenatal diagnosis. However, the diagnostic yield of chromosomal microarray analysis for prenatal diagnosis of congenital heart disease has not been evaluated based on a large cohort. Our aim was to evaluate the clinical utility of chromosomal microarray as the first-tier test for chromosomal abnormalities in fetuses with congenital heart disease. In this prospective study, 602 prenatal cases of congenital heart disease were investigated using single nucleotide polymorphism array over a 5-year period. Overall, pathogenic chromosomal abnormalities were identified in 125 (20.8%) of 602 prenatal cases of congenital heart disease, with 52.0% of them being numerical chromosomal abnormalities. The detection rates of likely pathogenic copy number variations and variants of uncertain significance were 1.3% and 6.0%, respectively. The detection rate of pathogenic chromosomal abnormalities in congenital heart disease plus additional structural anomalies (48.9% vs 14.3%, P congenital heart disease group. Additionally, the detection rate in congenital heart disease with additional structural anomalies group was significantly higher than that in congenital heart disease with soft markers group (48.9% vs 19.8%, P congenital heart disease with additional structural anomalies and congenital heart disease with intrauterine growth retardation groups (48.9% vs 50.0%), congenital heart disease with soft markers and congenital heart disease with intrauterine growth retardation groups (19.8% vs 50.0%), or congenital heart disease with soft markers and isolated congenital heart disease groups (19.8% vs 14.3%). The detection rate in fetuses with congenital heart disease plus mild ventriculomegaly was significantly higher than in those with other types of soft markers (50.0% vs 15.6%, P congenital heart disease in clinical practice. Copyright © 2017 Elsevier Inc. All rights reserved.

Prenatal Screening Using Maternal Markers

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Howard Cuckle

2014-05-01

Full Text Available Maternal markers are widely used to screen for fetal neural tube defects (NTDs, chromosomal abnormalities and cardiac defects. Some are beginning to broaden prenatal screening to include pregnancy complications such as pre-eclampsia. The methods initially developed for NTDs using a single marker have since been built upon to develop high performance multi-maker tests for chromosomal abnormalities. Although cell-free DNA testing is still too expensive to be considered for routine application in public health settings, it can be cost-effective when used in combination with existing multi-maker marker tests. The established screening methods can be readily applied in the first trimester to identify pregnancies at high risk of pre-eclampsia and offer prevention though aspirin treatment. Prenatal screening for fragile X syndrome might be adopted more widely if the test was to be framed as a form of maternal marker screening.

Group prenatal care.

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Mazzoni, Sara E; Carter, Ebony B

2017-06-01

Patients participating in group prenatal care gather together with women of similar gestational ages and 2 providers who cofacilitate an educational session after a brief medical assessment. The model was first described in the 1990s by a midwife for low-risk patients and is now practiced by midwives and physicians for both low-risk patients and some high-risk patients, such as those with diabetes. The majority of literature on group prenatal care uses CenteringPregnancy, the most popular model. The first randomized controlled trial of CenteringPregnancy showed that it reduced the risk of preterm birth in low-risk women. However, recent meta-analyses have shown similar rates of preterm birth, low birthweight, and neonatal intensive care unit admission between women participating in group prenatal care and individual prenatal care. There may be subgroups, such as African Americans, who benefit from this type of prenatal care with significantly lower rates of preterm birth. Group prenatal care seems to result in increased patient satisfaction and knowledge and use of postpartum family planning as well as improved weight gain parameters. The literature is inconclusive regarding breast-feeding, stress, depression, and positive health behaviors, although it is theorized that group prenatal care positively affects these outcomes. It is unclear whether group prenatal care results in cost savings, although it may in large-volume practices if each group consists of approximately 8-10 women. Group prenatal care requires a significant paradigm shift. It can be difficult to implement and sustain. More randomized trials are needed to ascertain the true benefits of the model, best practices for implementation, and subgroups who may benefit most from this innovative way to provide prenatal care. In short, group prenatal care is an innovative and promising model with comparable pregnancy outcomes to individual prenatal care in the general population and improved outcomes in some

The indication area of a diagnostic test. Part I--discounting gain and loss in diagnostic certainty

NARCIS (Netherlands)

Stalpers, Lukas J. A.; Nelemans, Patty J.; Geurts, Sandra M. E.; Jansen, Erik; de Boer, Peter; Verbeek, André L. M.

2015-01-01

Test performance is conventionally expressed by gain in diagnostic certainty. We propose net diagnostic gain and indication area as more appropriate measures of test performance; then, the loss in certainty due to misclassification and the information of "no test" would be performed are taken into

Chromosomal Mosaicism in Human Feto-Placental Development: Implications for Prenatal Diagnosis

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Francesca Romana Grati

2014-07-01

Full Text Available Chromosomal mosaicism is one of the primary interpretative issues in prenatal diagnosis. In this review, the mechanisms underlying feto-placental chromosomal mosaicism are presented. Based on the substantial retrospective diagnostic experience with chorionic villi samples (CVS of a prenatal diagnosis laboratory the following items are discussed: (i The frequency of the different types of mosaicism (confined placental, CPM, and true fetal mosaicisms, TFM; (ii The risk of fetal confirmation after the detection of a mosaic in CVS stratified by chromosome abnormality and placental tissue involvement; (iii The frequency of uniparental disomy for imprinted chromosomes associated with CPM; (iv The incidence of false-positive and false-negative results in CVS samples analyzed by only (semi-direct preparation or long term culture; and (v The implications of the presence of a feto-placental mosaicism for microarray analysis of CVS and non-invasive prenatal screening (NIPS.

Clinical application of fluorescence in situ hybridization for prenatal diagnosis

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Shu-fang JIANG

2012-07-01

Full Text Available Objective To establish and optimize the procedures of fluorescence in situ hybridization（FISH）, and evaluate its clinical value in rapid prenatal diagnosis of fetal numerical abnormality of chromosomes 21, 18, 13, X, Y. Methods Amniotic fluid or fetal blood was sampled by routine invasive procedures. After the amniotic fluid cells or fetal blood cells were separated and sequentially processed with hypotonic solution, fixation solution, smear and high temperature, they were hybridized in situ with two panels of specific fluorescence probes to detect numerical abnormality of chromosomes 21, 18, 13, X, Y. All the samples were also cultured and analyzed for their karyotype by conventional methods. Results When it was used as a diagnostic criterion of chromosomal number that the fluorescence signals were observed in ≥90% cells, GLP 13/GLP 21 probe panel showed 2 green/2 red fluorescence signals and CSP18/CSP X/CSP Y probe panel showed 2 blue/2 yellow (female or 2 blue/1 yellow/1 red fluorescence signals (male under normal condition. The test reports of all 196 cases were sent out in 72-96 hours, and 7 cases of Down syndrome, 2 cases of trisomy 18 and 1 case of sex chromosomal numerical abnormality were detected, which were accordant with karyotype analysis results reported one month later. Conclusions FISH has potential for clinical application, and is applicable to rapid prenatal diagnosis of fetal numerical abnormality of chromosomes 21, 18, 13, X, Y. The rapid FISH, together with conventional karyotyping, offer a valuable means for prenatal diagnosis of fetal aneuploidies.

Antimicrobial susceptibility testing by Australian veterinary diagnostic laboratories.

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Hardefeldt, L Y; Marenda, M; Crabb, H; Stevenson, M A; Gilkerson, J R; Billman-Jacobe, H; Browning, G F

2018-04-01

The national strategy for tackling antimicrobial resistance highlights the need for antimicrobial stewardship in veterinary practice and for surveillance of antimicrobial susceptibility in veterinary pathogens. Diagnostic laboratories have an important role in facilitating both of these processes, but it is unclear whether data from veterinary diagnostic laboratories are similar enough to allow for compilation and if there is consistent promotion of appropriate antimicrobial use embedded in the approaches of different laboratories to susceptibility testing. A cross-sectional study of antimicrobial susceptibility testing and reporting procedures by Australian veterinary diagnostic laboratories was conducted in 2017 using an online questionnaire. All 18 veterinary diagnostic laboratories in Australia completed the questionnaire. Kirby-Bauer disc diffusion was the method predominantly used for antimicrobial susceptibility testing and was used to evaluate 86% of all isolates, although two different protocols were used across the 18 laboratories (CLSI 15/18, CDS 3/18). Minimum inhibitory concentrations were never reported by 61% of laboratories. Common isolates were consistently reported on across all species, except for gram-negative isolates in pigs, for which there was some variation in the approach to reporting. There was considerable diversity in the panels of antimicrobials used for susceptibility testing on common isolates and no consistency was apparent between laboratories for any bacterial species. We recommend that nationally agreed and consistent antimicrobial panels for routine susceptibility testing should be developed and a uniform set of guidelines should be adopted by veterinary diagnostic laboratories in Australia. © 2018 Australian Veterinary Association.

An Economic Analysis of Cell-Free DNA Non-Invasive Prenatal Testing in the US General Pregnancy Population.

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Peter Benn

Full Text Available Analyze the economic value of replacing conventional fetal aneuploidy screening approaches with non-invasive prenatal testing (NIPT in the general pregnancy population.Using decision-analysis modeling, we compared conventional screening to NIPT with cell-free DNA (cfDNA analysis in the annual US pregnancy population. Sensitivity and specificity for fetal aneuploidies, trisomy 21, trisomy 18, trisomy 13, and monosomy X, were estimated using published data and modeling of both first- and second trimester screening. Costs were assigned for each prenatal test component and for an affected birth. The overall cost to the healthcare system considered screening costs, the number of aneuploid cases detected, invasive procedures performed, procedure-related euploid losses, and affected pregnancies averted. Sensitivity analyses evaluated the effect of variation in parameters. Costs were reported in 2014 US Dollars.Replacing conventional screening with NIPT would reduce healthcare costs if it can be provided for $744 or less in the general pregnancy population. The most influential variables were timing of screening entry, screening costs, and pregnancy termination rates. Of the 13,176 affected pregnancies undergoing screening, NIPT detected 96.5% (12,717/13,176 of cases, compared with 85.9% (11,314/13,176 by conventional approaches. NIPT reduced invasive procedures by 60.0%, with NIPT and conventional methods resulting in 24,596 and 61,430 invasive procedures, respectively. The number of procedure-related euploid fetal losses was reduced by 73.5% (194/264 in the general screening population.Based on our analysis, universal application of NIPT would increase fetal aneuploidy detection rates and can be economically justified. Offering this testing to all pregnant women is associated with substantial prenatal healthcare benefits.

The impact of new trends in POCTs for companion diagnostics, non-invasive testing and molecular diagnostics.

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Huckle, David

2015-06-01

Point-of-care diagnostics have been slowly developing over several decades and have taken on a new importance in current healthcare delivery for both diagnostics and development of new drugs. Molecular diagnostics have become a key driver of technology change and opened up new areas in companion diagnostics for use alongside pharmaceuticals and in new clinical approaches such as non-invasive testing. Future areas involving smartphone and other information technology advances, together with new developments in molecular biology, microfluidics and surface chemistry are adding to advances in the market. The focus for point-of-care tests with molecular diagnostic technologies is focused on advancing effective applications.

Immunochromatographic diagnostic test analysis using Google Glass.

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Feng, Steve; Caire, Romain; Cortazar, Bingen; Turan, Mehmet; Wong, Andrew; Ozcan, Aydogan

2014-03-25

We demonstrate a Google Glass-based rapid diagnostic test (RDT) reader platform capable of qualitative and quantitative measurements of various lateral flow immunochromatographic assays and similar biomedical diagnostics tests. Using a custom-written Glass application and without any external hardware attachments, one or more RDTs labeled with Quick Response (QR) code identifiers are simultaneously imaged using the built-in camera of the Google Glass that is based on a hands-free and voice-controlled interface and digitally transmitted to a server for digital processing. The acquired JPEG images are automatically processed to locate all the RDTs and, for each RDT, to produce a quantitative diagnostic result, which is returned to the Google Glass (i.e., the user) and also stored on a central server along with the RDT image, QR code, and other related information (e.g., demographic data). The same server also provides a dynamic spatiotemporal map and real-time statistics for uploaded RDT results accessible through Internet browsers. We tested this Google Glass-based diagnostic platform using qualitative (i.e., yes/no) human immunodeficiency virus (HIV) and quantitative prostate-specific antigen (PSA) tests. For the quantitative RDTs, we measured activated tests at various concentrations ranging from 0 to 200 ng/mL for free and total PSA. This wearable RDT reader platform running on Google Glass combines a hands-free sensing and image capture interface with powerful servers running our custom image processing codes, and it can be quite useful for real-time spatiotemporal tracking of various diseases and personal medical conditions, providing a valuable tool for epidemiology and mobile health.

Dural sinus malformation (DSM) in fetuses. Diagnostic value of prenatal MRI and follow-up

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Merzoug, Valerie; Drissi, Cyrine; Adamsbaum, Catherine [Hopital Saint Vincent de Paul, Service de Radiopediatrie, Paris (France); Flunker, Sabrina; Couture, Alain [Hopital Arnaud de Villeneuve, Service de Radiopediatrie, Montpellier cedex 5 (France); Eurin, Danielle [Hopital Charles Nicolle, Service de Radiopediatrie, Rouen (France); Grange, Gilles [Hopital Cochin, Service de Gyneco-Obstetrique, Maternite Port-Royal, Paris (France); Garel, Catherine [Hopital Armand Trousseau, Service de Radiopediatrie, Paris (France); Richter, Brigitte [Hopital Clemenceau, Service de Radiopediatrie, Caen (France); Geissler, Frederic [Centre Hospitalier Universitaire, Service de Radiopediatrie, Clermont Ferrand (France)

2008-04-15

Dural sinus malformations (DSM) are rare malformations mainly reported after birth. The objectives of this study are to describe their prenatal patterns and to focus on their possible favorable outcome. This multicenter retrospective study reported 13 cases of DSM prenatally diagnosed. The admission criterion was a dural mass posterior to the vermis. In 12 patients, MRI was performed after US. Follow-up in 10 born babies (mean: 8 months) and three neuropathological examinations were available. In all fetuses, DSM presented as a well-delimited round mass involving the torcular. The follow-up examinations (n = 10) revealed progressive thrombosis of the DSM marked by a heterogeneous pattern (US and MRI) with concentric rings. The volume of the mass decreased, with complete regression in seven patients (five before and two after birth). One child died at the age of 5 months in the context of major hydrocephalus and another developed atrophy of the frontal lobes. The eight other babies were doing well (5 days to 3 years) without any treatment (n = 6) or following treatment for hydrocephalus (n = 2). Prenatal DSM may have a typical MR pattern, and the prognosis might not be as bad as has previously been reported. In the absence of criterion to predict the hydrovenous cerebral imbalance, it is mandatory to check the parenchyma and the ventricles during the pregnancy. (orig.)

Dural sinus malformation (DSM) in fetuses. Diagnostic value of prenatal MRI and follow-up

International Nuclear Information System (INIS)

Merzoug, Valerie; Drissi, Cyrine; Adamsbaum, Catherine; Flunker, Sabrina; Couture, Alain; Eurin, Danielle; Grange, Gilles; Garel, Catherine; Richter, Brigitte; Geissler, Frederic

2008-01-01

Dural sinus malformations (DSM) are rare malformations mainly reported after birth. The objectives of this study are to describe their prenatal patterns and to focus on their possible favorable outcome. This multicenter retrospective study reported 13 cases of DSM prenatally diagnosed. The admission criterion was a dural mass posterior to the vermis. In 12 patients, MRI was performed after US. Follow-up in 10 born babies (mean: 8 months) and three neuropathological examinations were available. In all fetuses, DSM presented as a well-delimited round mass involving the torcular. The follow-up examinations (n = 10) revealed progressive thrombosis of the DSM marked by a heterogeneous pattern (US and MRI) with concentric rings. The volume of the mass decreased, with complete regression in seven patients (five before and two after birth). One child died at the age of 5 months in the context of major hydrocephalus and another developed atrophy of the frontal lobes. The eight other babies were doing well (5 days to 3 years) without any treatment (n = 6) or following treatment for hydrocephalus (n 2). Prenatal DSM may have a typical MR pattern, and the prognosis might not be as bad as has previously been reported. In the absence of criterion to predict the hydrovenous cerebral imbalance, it is mandatory to check the parenchyma and the ventricles during the pregnancy. (orig.)

Effect of Amphetamine on Adult Male and Female Rats Prenatally Exposed to Methamphetamine

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Romana Šlamberová

2014-01-01

Full Text Available The aim of the present study was to examine the cross-sensitization induced by prenatal methamphetamine (MA exposure to adult amphetamine (AMP treatment in male and female rats. Rat mothers received a daily injection of MA (5 mg/kg or saline throughout the gestation period. Adult male and female offspring (prenatally MA- or saline-exposed were administered with AMP (5 mg/kg or saline (1 ml/kg in adulthood. Behaviour in unknown environment was examined in open field test (Laboras, active drug-seeking behaviour in conditioned place preference test (CPP, spatial memory in the Morris water maze (MWM, and levels of corticosterone (CORT were analyzed by enzyme immunoassay (EIA. Our data demonstrate that in Laboras test, AMP treatment in adulthood increased general locomotion (time and distance travelled regardless of the prenatal exposure and sex, while AMP increased exploratory activity (rearing only in prenatally MA-exposed animals. AMP induced sensitization only in male rats, but not in females when tested drug-seeking behaviour in the CPP test. In the spatial memory MWM test, AMP worsened the performance only in females, but not in males. On the other hand, males swam faster after chronic AMP treatment regardless of the prenatal drug exposure. EIA analysis of CORT levels demonstrated higher level in females in all measurement settings. In males, prenatal MA exposure and chronic adult AMP treatment decreased CORT levels. Thus, our data demonstrated that adult AMP treatment affects behaviour of adult rats, their spatial memory and stress response in sex-specific manner. The effect is also influenced by prenatal drug exposure.

Health Technology Assessment for Molecular Diagnostics: Practices, Challenges, and Recommendations from the Medical Devices and Diagnostics Special Interest Group.

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Garfield, Susan; Polisena, Julie; S Spinner, Daryl; Postulka, Anne; Y Lu, Christine; Tiwana, Simrandeep K; Faulkner, Eric; Poulios, Nick; Zah, Vladimir; Longacre, Michael

2016-01-01

Health technology assessments (HTAs) are increasingly used to inform coverage, access, and utilization of medical technologies including molecular diagnostics (MDx). Although MDx are used to screen patients and inform disease management and treatment decisions, there is no uniform approach to their evaluation by HTA organizations. The International Society for Pharmacoeconomics and Outcomes Research Devices and Diagnostics Special Interest Group reviewed diagnostic-specific HTA programs and identified elements representing common and best practices. MDx-specific HTA programs in Europe, Australia, and North America were characterized by methodology, evaluation framework, and impact. Published MDx HTAs were reviewed, and five representative case studies of test evaluations were developed: United Kingdom (National Institute for Health and Care Excellence's Diagnostics Assessment Programme, epidermal growth factor receptor tyrosine kinase mutation), United States (Palmetto's Molecular Diagnostic Services Program, OncotypeDx prostate cancer test), Germany (Institute for Quality and Efficiency in Healthcare, human papillomavirus testing), Australia (Medical Services Advisory Committee, anaplastic lymphoma kinase testing for non-small cell lung cancer), and Canada (Canadian Agency for Drugs and Technologies in Health, Rapid Response: Non-invasive Prenatal Testing). Overall, the few HTA programs that have MDx-specific methods do not provide clear parameters of acceptability related to clinical and analytic performance, clinical utility, and economic impact. The case studies highlight similarities and differences in evaluation approaches across HTAs in the performance metrics used (analytic and clinical validity, clinical utility), evidence requirements, and how value is measured. Not all HTAs are directly linked to reimbursement outcomes. To improve MDx HTAs, organizations should provide greater transparency, better communication and collaboration between industry and HTA

Rethinking autonomy in the context of prenatal screening decision-making.

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García, Elisa; Timmermans, Danielle R M; van Leeuwen, Evert

2008-02-01

Answering the question: Does the offer of prenatal screening impede women in making autonomous choices? Semi-structured interviews with 59 women to whom a prenatal screening test was offered and who were in the process of taking a decision. Women described the offer as confronting but expressed a positive attitude towards screening and considered the offer as an opportunity for making up their minds about testing. Participants stated that they took decisions freely to follow their individual perspectives. Nevertheless, they preferred to share the responsibility of taking decisions, and its consequences for other family members, with their partner and close persons. The active offer of an unsolicited prenatal test need not be considered as an impediment for making an autonomous choice. The moral significance of prenatal testing is inseparably bound with the social context in which it is practiced. Influence from other persons and emotional reactions due to the test offer can be interpreted as supportive for making a choice. In clinical practice, testing should be timely offered in order to give women the opportunity of discussing their views with significant others. Caregivers should care for the emotions experienced by women so as to help them decide according to their values.

Dilution testing using rapid diagnostic tests in a HIV diagnostic algorithm: a novel alternative for confirmation testing in resource limited settings.

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Shanks, Leslie; Siddiqui, M Ruby; Abebe, Almaz; Piriou, Erwan; Pearce, Neil; Ariti, Cono; Masiga, Johnson; Muluneh, Libsework; Wazome, Joseph; Ritmeijer, Koert; Klarkowski, Derryck

2015-05-14

Current WHO testing guidelines for resource limited settings diagnose HIV on the basis of screening tests without a confirmation test due to cost constraints. This leads to a potential risk of false positive HIV diagnosis. In this paper, we evaluate the dilution test, a novel method for confirmation testing, which is simple, rapid, and low cost. The principle of the dilution test is to alter the sensitivity of a rapid diagnostic test (RDT) by dilution of the sample, in order to screen out the cross reacting antibodies responsible for falsely positive RDT results. Participants were recruited from two testing centres in Ethiopia where a tiebreaker algorithm using 3 different RDTs in series is used to diagnose HIV. All samples positive on the initial screening RDT and every 10th negative sample underwent testing with the gold standard and dilution test. Dilution testing was performed using Determine™ rapid diagnostic test at 6 different dilutions. Results were compared to the gold standard of Western Blot; where Western Blot was indeterminate, PCR testing determined the final result. 2895 samples were recruited to the study. 247 were positive for a prevalence of 8.5 % (247/2895). A total of 495 samples underwent dilution testing. The RDT diagnostic algorithm misclassified 18 samples as positive. Dilution at the level of 1/160 was able to correctly identify all these 18 false positives, but at a cost of a single false negative result (sensitivity 99.6 %, 95 % CI 97.8-100; specificity 100 %, 95 % CI: 98.5-100). Concordance between the gold standard and the 1/160 dilution strength was 99.8 %. This study provides proof of concept for a new, low cost method of confirming HIV diagnosis in resource-limited settings. It has potential for use as a supplementary test in a confirmatory algorithm, whereby double positive RDT results undergo dilution testing, with positive results confirming HIV infection. Negative results require nucleic acid testing to rule out false

Incomplete dicephalous conjoined twins: prenatal US and MRI findings

International Nuclear Information System (INIS)

Salvador, Diego; Ruata, Maria I.; Ruiz Lascano, Diogenes; Travella, Claudio; Tinti, Maria E.

2002-01-01

The authors report a case of incomplete dicephali conjoined twins, with prenatal diagnostic by ultrasound scan and confirmed with nuclear magnetic resonance. In this case the fetus presented two complete heads and necks, two parallel columns up to the coccyx, one single body, two complete arms and two complete legs. Thorax and abdominal organs were not double, however the heart had more than four cavities. This abnormality appears when the zygote division happens after the day 14 from fertilization and it is unable to cause the fission, resulting in an incomplete division. This kind of conjoined twins have practically no chance of surviving, due to the large number of shared organs. The prenatal diagnosis is important to separate these cases from those with a chance of living with surgical intervention. (author)

Decisional needs assessment regarding Down syndrome prenatal testing: a systematic review of the perceptions of women, their partners and health professionals.

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St-Jacques, Sylvie; Grenier, Sonya; Charland, Marc; Forest, Jean-Claude; Rousseau, François; Légaré, France

2008-12-01

To identify decisional needs of women, their partners and health professionals regarding prenatal testing for Down syndrome through a systematic review. Articles reporting original data from real clinical situations on sources of difficulty and/or ease in making decisions regarding prenatal testing for Down syndrome were selected. Data were extracted using a taxonomy adapted from the Ottawa Decision-Support Framework and the quality of the studies was assessed using Qualsyst validated tools. In all 40 publications covering 32 unique studies were included. The majority concerned women. The most often reported sources of difficulty for decision-making in women were pressure from others, emotions and lack of information; in partners, emotion; in health professionals, lack of information, length of consultation, and personal values. The most important sources of ease were, in women, personal values, understanding and confidence in the medical system; in partners, personal values, information from external sources, and income; in health professionals, peer support and scientific meetings. Interventions regarding a decision about prenatal testing for Down syndrome should address many decisional needs, which may indeed vary among the parties involved, whether women, their partners or health professionals. Very little is known about the decisional needs of partners and health professionals.

Prenatal molecular diagnosis of oculocutaneous albinism (OCA) in a large cohort of Israeli families.

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Rosenmann, Ada; Bejarano-Achache, Idit; Eli, Dalia; Maftsir, Genia; Mizrahi-Meissonnier, Liliana; Blumenfeld, Anat

2009-10-01

To present our accumulated data on prenatal molecular diagnosis of oculocutaneous albinism (OCA) in a large cohort of Israeli albino families. Albinism consists of variable phenotypes, but only families with predicted severely handicapped albino offspring, who declared their wish to terminate a pregnancy of such a fetus, are eligible for prenatal testing. Prenatal testing is not offered otherwise. Following detailed genetic investigation and counseling, molecular prenatal testing was performed using the combination of mutation screening, direct sequencing, and haplotype analysis. A total of 55 prenatal tests were performed in 37 families; in 26 families the propositus was the child, and in 11, a parent or a close relative. In 32 families tyrosinase (TYR) mutations were diagnosed. In 5 families a P gene mutation was detected. Twelve albino fetuses were diagnosed. Following further genetic counseling, all couples elected to terminate the pregnancy. Three additional pregnancies were terminated for other reasons. Families with increased risk for an albino child with severe visual handicap, seek premarital and prenatal genetic counseling and testing, for the prevention of affected offspring. Our combined methods of molecular genetic testing enable a nationwide approach for prevention of albinism. The same paradigm can be applied to other populations affected with albinism.

Quantifying the Accuracy of a Diagnostic Test or Marker

NARCIS (Netherlands)

Linnet, Kristian; Bossuyt, Patrick M. M.; Moons, Karel G. M.; Reitsma, Johannes B. R.

2012-01-01

BACKGROUND: In recent years, increasing focus has been directed to the methodology for evaluating (new) tests or biomarkers. A key step in the evaluation of a diagnostic test is the investigation into its accuracy. CONTENT: We reviewed the literature on how to assess the accuracy of diagnostic

The effect of prenatal methamphetamine exposure on recognition memory in adult rats.

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Fialová, Markéta; Šírová, Jana; Bubeníková-Valešová, Věra; Šlamberová, Romana

2015-01-01

The use of methamphetamine (MA) among pregnant women is an increasing world-wide health problem. Prenatal MA exposure may cause changes in foetus but the exact effects have remained unclear. The aim of this study is to present the effect of prenatal MA exposure on recognition memory in adult rats. Adult female Wistar rats were injected daily with D-methamphetamine HCl (MA; 5 mg/kg, s.c.) during the entire gestation period. Control females were treated with saline in the same regime. Adult male offspring was administrated acutely by MA (1 mg/kg i.p.) or saline 30 minutes before beginning of an experiment. For testing recognition memory two tasks were chosen: Novel Object Recognition Test (NORT) and Object Location Test (OLT). Our results demonstrate that prenatally MA-exposed animals were worse in NORT independently on an acute administration of MA in adulthood. Prenatally MA-exposed rats did not deteriorate in OLT, but after acute administration of MA in adulthood, there was significant worsening compared to appropriate control. Prenatally saline-exposed offspring did not deteriorate in any test even after acute administration of MA. Our data suggest that prenatal MA exposure in rats cause impairment in recognition memory in adult offspring, but not in spatial memory. In addition, acute administration of MA to controls did not deteriorate either recognition or spatial memory.

Haplotype-based approach for noninvasive prenatal tests of Duchenne muscular dystrophy using cell-free fetal DNA in maternal plasma

DEFF Research Database (Denmark)

Xu, Yan; Li, Xuchao; Ge, Hui-Juan

2015-01-01

Purpose:This study demonstrates noninvasive prenatal testing (NIPT) for Duchenne muscular dystrophy (DMD) using a newly developed haplotype-based approach.Methods:Eight families at risk for DMD were recruited for this study. Parental haplotypes were constructed using target-region sequencing data...

Fetal polycystic renal disease: prenatal sonographic findings with pathologic correlation

International Nuclear Information System (INIS)

Jun, Soon Ae; Park, Yong Hyun; Cha, Sun Hee; Kay, Jung Woong; Cho, Joo Yeon; Cha, Kwang Yul; Cha, Kyung Sub; Chi, Je G.

1990-01-01

Polycystic renal disease are congenital disorders, most of which are fatal in the postnatal period. A series of ten cases of polycystic renal disease diagnosed prenatally by ultrasonography is presented. Diagnostic criteria of ultrasonography for cystic renal disease are; 1. enlarge kidney (4 cases) 2. echogenic density of kidney (3 cases) 3. 0.4 - 0.9cm sized multiple cysts within the renal cortex (3 cases) 4. decreased amount of amniotic fluid (4 cases) 5. hydronephrosis (4 cases) 6. distended bladder (2 cases) 7. absence of bladder (2 cases) Eight of ten cases were confirmed by autopsy. Seven cases had other associated congenital anomalies, i.e. pulmonary hypoplasia (5), hepatic fibrosis (3), congenital heart disease (3), tracheoesophageal fistula with imperforate anus (1), caudal regression syndrome (1), Meckel-Gruber syndrome (1) and ambiguous genitalia (2). Additional cytogenetic study of the fetus and the careful family history taking followed by prenatal diagnosis of cystic renal disease. Precise prenatal diagnosis may allow patients the option of elective abortion or may prevent unnecessary obstetric intervention

Local Sensitivity and Diagnostic Tests

NARCIS (Netherlands)

Magnus, J.R.; Vasnev, A.L.

2004-01-01

In this paper we confront sensitivity analysis with diagnostic testing.Every model is misspecified, but a model is useful if the parameters of interest (the focus) are not sensitive to small perturbations in the underlying assumptions. The study of the e ect of these violations on the focus is

Prenatal sonographic diagnosis of limb-body wall complex: case series of a rare congenital anomaly

Directory of Open Access Journals (Sweden)

Arshad Bhat, MBBS, DMRD

2016-06-01

Full Text Available Three case reports of a rare congenital anomaly “limb-body wall complex” also known as “body stalk syndrome” are presented with prenatal ultrasonographic diagnostic features, immediate after delivery evaluation, and histopathologic analysis.

Neurobehavioral deficits associated with PCB in 7-year-old children prenatally exposed to seafood neurotoxicants

DEFF Research Database (Denmark)

Grandjean, Philippe; Weihe, Pál; Burse, Virlyn W.

2001-01-01

Methylmercury compounds, Neuropsychological tests, Polychlorinated biphenyls, Prenatal exposure delayed effects, Preschool child......Methylmercury compounds, Neuropsychological tests, Polychlorinated biphenyls, Prenatal exposure delayed effects, Preschool child...

DiagTest3Grp: An R Package for Analyzing Diagnostic Tests with Three Ordinal Groups

Directory of Open Access Journals (Sweden)

Jingqin Luo

2012-10-01

Full Text Available Medical researchers endeavor to identify potentially useful biomarkers to develop marker-based screening assays for disease diagnosis and prevention. Useful summary measures which properly evaluate the discriminative ability of diagnostic markers are critical for this purpose. Literature and existing software, for example, R packages nicely cover summary measures for diagnostic markers used for the binary case (e.g., healthy vs. diseased. An intermediate population at an early disease stage usually exists between the healthy and the fully diseased population in many disease processes. Supporting utilities for three-group diagnostic tests are highly desired and important for identifying patients at the early disease stage for timely treatments. However, application packages which provide summary measures for three ordinal groups are currently lacking. This paper focuses on two summary measures of diagnostic accuracy—volume under the receiver operating characteristic surface and the extended Youden index, with three diagnostic groups. We provide the R package DiagTest3Grp to estimate, under both parametric and nonparametric assumptions, the two summary measures and the associated variances, as well as the optimal cut-points for disease diagnosis. An omnibus test for multiple markers and a Wald test for two markers, on independent or paired samples, are incorporated to compare diagnostic accuracy across biomarkers. Sample size calculation under the normality assumption can be performed in the R package to design future diagnostic studies. A real world application evaluating the diagnostic accuracy of neuropsychological markers for Alzheimer’s disease is used to guide readers through step-by-step implementation of DiagTest3Grp to demonstrate its utility.

Prenatal diagnosis of hemoglobinopathies: from fetoscopy to coelocentesis

Directory of Open Access Journals (Sweden)

Gianfranca Damiani

2014-09-01

Full Text Available Prenatal diagnosis of hemoglobinopathies involves the study of fetal material from blood, amniocytes, trophoblast coelomatic cells and fetal DNA in maternal circulation. Its first application dates back to the 70s and it involves globin chain synthesis analysis on fetal blood. In the 1980s molecular analysis was introduced as well as amniocentesis and chorionic villi sampling under high-resolution ultrasound imaging. The application of direct sequencing and polymerase chain reactionbased methodologies improved the DNA analysis procedures and reduced the sampling age for invasive prenatal diagnosis from 18 to 16- 11 weeks allowing fetal genotyping within the first trimester of pregnancy. In the last years, fetal material obtained at 7-8 weeks of gestation by coelocentesis and isolation of fetal cells has provided new platforms on which to develop diagnostic capabilities while non-invasive technologies using fetal DNA in maternal circulation are starting to develop.

Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.

Science.gov (United States)

Ellingford, Jamie M; Barton, Stephanie; Bhaskar, Sanjeev; Williams, Simon G; Sergouniotis, Panagiotis I; O'Sullivan, James; Lamb, Janine A; Perveen, Rahat; Hall, Georgina; Newman, William G; Bishop, Paul N; Roberts, Stephen A; Leach, Rick; Tearle, Rick; Bayliss, Stuart; Ramsden, Simon C; Nemeth, Andrea H; Black, Graeme C M

2016-05-01

To compare the efficacy of whole genome sequencing (WGS) with targeted next-generation sequencing (NGS) in the diagnosis of inherited retinal disease (IRD). Case series. A total of 562 patients diagnosed with IRD. We performed a direct comparative analysis of current molecular diagnostics with WGS. We retrospectively reviewed the findings from a diagnostic NGS DNA test for 562 patients with IRD. A subset of 46 of 562 patients (encompassing potential clinical outcomes of diagnostic analysis) also underwent WGS, and we compared mutation detection rates and molecular diagnostic yields. In addition, we compared the sensitivity and specificity of the 2 techniques to identify known single nucleotide variants (SNVs) using 6 control samples with publically available genotype data. Diagnostic yield of genomic testing. Across known disease-causing genes, targeted NGS and WGS achieved similar levels of sensitivity and specificity for SNV detection. However, WGS also identified 14 clinically relevant genetic variants through WGS that had not been identified by NGS diagnostic testing for the 46 individuals with IRD. These variants included large deletions and variants in noncoding regions of the genome. Identification of these variants confirmed a molecular diagnosis of IRD for 11 of the 33 individuals referred for WGS who had not obtained a molecular diagnosis through targeted NGS testing. Weighted estimates, accounting for population structure, suggest that WGS methods could result in an overall 29% (95% confidence interval, 15-45) uplift in diagnostic yield. We show that WGS methods can detect disease-causing genetic variants missed by current NGS diagnostic methodologies for IRD and thereby demonstrate the clinical utility and additional value of WGS. Copyright © 2016 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.

Developmental programming: Impact of prenatal testosterone treatment and postnatal obesity on ovarian follicular dynamics

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Padmanabhan, V; Smith, P; Veiga-Lopez, A

2012-01-01

Prenatal testosterone (T) excess leads to reproductive dysfunctions in sheep with obesity exaggerating such defects. Developmental studies found ovarian reserve is similar in control and prenatal T sheep at fetal day 140, with prenatal T females showing increased follicular recruitment and persistence at 10 months of age (postpubertal). This study tested if prenatal T sheep show accelerated depletion prepubertally and if depletion of ovarian reserve would explain loss of cyclicity in prenatal...

Integration of noninvasive prenatal prediction of fetal blood group into clinical prenatal care

DEFF Research Database (Denmark)

Clausen, Frederik Banch

2014-01-01

Incompatibility of red blood cell blood group antigens between a pregnant woman and her fetus can cause maternal immunization and, consequently, hemolytic disease of the fetus and newborn. Noninvasive prenatal testing of cell-free fetal DNA can be used to assess the risk of hemolytic disease...

Update on procedure-related risks for prenatal diagnosis techniques

DEFF Research Database (Denmark)

Tabor, Ann; Alfirevic, Zarko

2010-01-01

Introduction: As a consequence of the introduction of effective screening methods, the number of invasive prenatal diagnostic procedures is steadily declining. The aim of this review is to summarize the risks related to these procedures. Material and Methods: Review of the literature. Results: Data...... from randomised controlled trials as well as from systematic reviews and a large national registry study are consistent with a procedure-related miscarriage rate of 0.5-1.0% for amniocentesis as well as for chorionic villus sampling (CVS). In single-center studies performance may be remarkably good due...... not be performed before 15 + 0 weeks' gestation. CVS on the other hand should not be performed before 10 weeks' gestation due to a possible increase in risk of limb reduction defects. Discussion: Experienced operators have a higher success rate and a lower complication rate. The decreasing number of prenatal...

Diagnóstico Prenatal

OpenAIRE

López, Jaime Octavio; Saldarriaga, Wilmar; Fundación Valle de Lili

2010-01-01

Diagnóstico Prenatal/ propósitos del diagnóstico prenatal/ Tamizaje a partir del Control Prenatal/ Pacientes de bajo riesgo/ Tamizaje bioquímico/ Pacientes de alto riesgo/ Pruebas invasivas y no invasivas

Rethinking autonomy in the context of prenatal screening decision-making.

NARCIS (Netherlands)

Garcia, E.; Timmermans, D.R.; Leeuwen, E. van

2008-01-01

OBJECTIVES: Answering the question: Does the offer of prenatal screening impede women in making autonomous choices? METHODS: Semi-structured interviews with 59 women to whom a prenatal screening test was offered and who were in the process of taking a decision. RESULTS: Women described the offer as

Rethinking autonomy in the context of prenatal screening decision-making

NARCIS (Netherlands)

Garcia Gonzalez, M.E.; Timmermans, D.R.M.; van Leeuwen, E.

2008-01-01

Objectives: Answering the question: Does the offer of prenatal screening impede women in making autonomous choices? Methods: Semi-structured interviews with 59 women to whom a prenatal screening test was offered and who were in the process of taking a decision. Results: Women described the offer as

[Prenatal care in Latin America].

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Buekens, P; Hernández, P; Infante, C

1990-01-01

Available data on the coverage of prenatal care in Latin America were reviewed. In recent years, only Bolivia had a coverage of prenatal care of less than 50 per cent. More than 90 per cent of pregnant women received prenatal care in Chile, Cuba, the Dominican Republic, and Puerto Rico. Prenatal care increased between the 1970 and 1980 in the Dominican Republic, Ecuador, Guatemala, Honduras, Mexico, and Peru. The coverage of prenatal care decreased in Bolivia and Colombia. The mean number of visits increased in Cuba and Puerto Rico. The increase of prenatal care in Guatemala and Honduras is due to increased care by traditional birth attendants, compared to the role of health care institutions. We compared the more recent data on tetanus immunization of pregnant women to the more recent data on prenatal care. The rates of tetanus immunization are always lower than the rates of prenatal care attendance, except in Costa Rica. The rates of tetanus immunization was less than half as compared to the rates of prenatal care in Bolivia, Guatemala, and Peru. To improve the content of prenatal care should be an objective complementary to the increase of the number of attending women.

Prenatal Cell-Free DNA Screening

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... poses no physical risks for you or your baby. While prenatal cell-free DNA screening might cause anxiety, it might help you avoid the need for more invasive tests, treatment or monitoring during your pregnancy. Keep in mind, however, that ...

Diagnóstico prenatal de artrogriposis múltiple congénita Prenatal diagnosis of arthrogryposis multiplex congenita

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Ivonne Martínez Vidal

2013-03-01

Full Text Available La artrogriposis múltiple congénita puede definirse como una displasia articular sistémica, caracterizada por rigidez articular en múltiples localizaciones de forma congénita. Se presenta un caso en el que se diagnosticó prenatalmente este signo clínico, que puede tener múltiples causas subyacentes.Arthrogryposis multiplex congenita may be defined as a systemic articular dysplasia characterized by articular rigidity in a many locations of congenital origin. A case was presented in which this clinical sign was diagnosed at prenatal phase and it may have many underlying causes.

Establishment of the South-Eastern Norway Regional Health Authority Resource Center for Children with Prenatal Alcohol/Drug Exposure

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Gro C. C. Løhaugen

2015-01-01

Full Text Available This paper presents a new initiative in the South-Eastern Health Region of Norway to establish a regional resource center focusing on services for children and adolescents aged 2–18 years with prenatal exposure to alcohol or other drugs. In Norway, the prevalence of fetal alcohol spectrum (FAS is not known but has been estimated to be between 1 and 2 children per 1000 births, while the prevalence of prenatal exposure to illicit drugs is unknown. The resource center is the first of its kind in Scandinavia and will have three main objectives: (1 provide hospital staff, community health and child welfare personnel, and special educators with information, educational courses, and seminars focused on the identification, diagnosis, and treatment of children with a history of prenatal alcohol/drug exposure; (2 provide specialized health services, such as diagnostic services and intervention planning, for children referred from hospitals in the South-Eastern Health Region of Norway; and (3 initiate multicenter studies focusing on the diagnostic process and evaluation of interventions.

Reporting Diagnostic Scores in Educational Testing: Temptations, Pitfalls, and Some Solutions

Science.gov (United States)

Sinharay, Sandip; Puhan, Gautam; Haberman, Shelby J.

2010-01-01

Diagnostic scores are of increasing interest in educational testing due to their potential remedial and instructional benefit. Naturally, the number of educational tests that report diagnostic scores is on the rise, as are the number of research publications on such scores. This article provides a critical evaluation of diagnostic score reporting…

HIVThe influence of HIV status on prenatal genetic diagnosis choices

African Journals Online (AJOL)

HIVThe influence of HIV status on prenatal genetic diagnosis choices. JS Bee, M Glass, JGR Kromberg. Abstract. Background. At-risk women of advanced maternal age (AMA) can choose to have second-trimester invasive testing for a prenatal genetic diagnosis on the fetus. Being HIV-positive can complicate the ...

Partner's influences and other correlates of prenatal alcohol use.

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van der Wulp, Nickie Y; Hoving, Ciska; de Vries, Hein

2015-04-01

To investigate the influence of partners on alcohol consumption in pregnant women within the context of other factors. A Dutch nationwide online cross-sectional study among 158 pregnant women and their partners was conducted. To identify correlates of prenatal alcohol use, including perceived and reported partner norm (i.e. partner's belief regarding acceptability of prenatal alcohol use), partner modeling (i.e. partner's alcohol use during the woman's pregnancy) and partner support (i.e. partner's help in abstaining from alcohol during pregnancy), independent sample T-tests and Chi square tests were conducted. Correlation analyses tested the relationship between perceived and reported partner influence. Multivariate logistic hierarchical regression analyses tested the independent impact of partner's perceived and reported influence next to other correlates from the I-Change Model. Pregnant women who consumed alcohol perceived a weaker partner norm (p alcohol use and a weaker partner norm were more likely to use alcohol (R(2) = 0.42). This study demonstrated that perceived partner norm was the most critical of the constructs of perceived and reported partner influences in explaining prenatal alcohol use.

Prenatal and Perinatal Morbidity in Children with Tic Disorders: A Mainstream School-based Population Study in Central Spain.

Science.gov (United States)

Cubo, Esther; Hortigüela, Montesclaros; Jorge-Roldan, Sandra; Ciciliani, Selva Esther; Lopez, Patricia; Velasco, Leticia; Sastre, Emilio; Ausin, Vanesa; Delgado, Vanesa; Saez, Sara; Gabriel-Galán, José Trejo; Macarrón, Jesús

2014-01-01

While current research suggests that genetic factors confer the greatest risk for the development of tic disorders, studies of environmental factors are relatively few, with a lack of consistent risk factors across studies. Our aim is to analyze the association of tic disorders with exposure to prenatal and perinatal morbidity. This was a nested case-control study design. Cases and controls were selected and identified from a mainstream, school-based sample. The diagnosis of tic disorders was assigned by a movement disorder neurologist using 'Diagnostic and statistical manual of mental disorders, 4th edition, text revision' criteria, and neuropsychiatric comorbidities were screened using the Spanish computerized version of the Diagnostic Interview Schedule for Children Predictive Scale. Information regarding the exposure to pre-perinatal risk factors was collected by a retrospective review of the birth certificates. Logistic regression analyses were then performed to test the association of tic disorders with pre-perinatal risk factors. Out of 407 participants, complete pre-perinatal data were available in 153 children (64 with tics and 89 without tics). After adjusting for family history of tics, neonatal respiratory distress syndrome, body mass index, prenatal infection, and coexisting comorbid neuropsychiatric disturbances, tic disorders were associated with prenatal exposure to tobacco (odds ratio [OR] = 3.07, 95% confidence interval [CI] 1.24-7.60, p = 0.007), and cesarean section (OR = 5.78, 95% CI 1.60-20.91, p = 0.01). This nested case-control study of children with tic disorders demonstrates higher adjusted odds for tics in children with exposure to cesarean delivery and maternal smoking. Longitudinal, population-based samples are required to confirm these results.

Exploring general practitioners' experience of informing women about prenatal screening tests for foetal abnormalities: A qualitative focus group study

Directory of Open Access Journals (Sweden)

Meiser Bettina

2008-05-01

Full Text Available Abstract Background Recent developments have made screening tests for foetal abnormalities available earlier in pregnancy and women have a range of testing options accessible to them. It is now recommended that all women, regardless of their age, are provided with information on prenatal screening tests. General Practitioners (GPs are often the first health professionals a woman consults in pregnancy. As such, GPs are well positioned to inform women of the increasing range of prenatal screening tests available. The aim of this study was to explore GPs experience of informing women of prenatal genetic screening tests for foetal abnormality. Methods A qualitative study consisting of four focus groups was conducted in metropolitan and rural Victoria, Australia. A discussion guide was used and the audio-taped transcripts were independently coded by two researchers using thematic analysis. Multiple coders and analysts and informant feedback were employed to reduce the potential for researcher bias and increase the validity of the findings. Results Six themes were identified and classified as 'intrinsic' if they occurred within the context of the consultation or 'extrinsic' if they consisted of elements that impacted on the GP beyond the scope of the consultation. The three intrinsic themes were the way GPs explained the limitations of screening, the extent to which GPs provided information selectively and the time pressures at play. The three extrinsic factors were GPs' attitudes and values towards screening, the conflict they experienced in offering screening information and the sense of powerlessness within the screening test process and the health care system generally. Extrinsic themes reveal GPs' attitudes and values to screening and to disability, as well as raising questions about the fundamental premise of testing. Conclusion The increasing availability and utilisation of screening tests, in particular first trimester tests, has expanded GPs

Automation of diagnostic genetic testing: mutation detection by cyclic minisequencing.

Science.gov (United States)

Alagrund, Katariina; Orpana, Arto K

2014-01-01

The rising role of nucleic acid testing in clinical decision making is creating a need for efficient and automated diagnostic nucleic acid test platforms. Clinical use of nucleic acid testing sets demands for shorter turnaround times (TATs), lower production costs and robust, reliable methods that can easily adopt new test panels and is able to run rare tests in random access principle. Here we present a novel home-brew laboratory automation platform for diagnostic mutation testing. This platform is based on the cyclic minisequecing (cMS) and two color near-infrared (NIR) detection. Pipetting is automated using Tecan Freedom EVO pipetting robots and all assays are performed in 384-well micro plate format. The automation platform includes a data processing system, controlling all procedures, and automated patient result reporting to the hospital information system. We have found automated cMS a reliable, inexpensive and robust method for nucleic acid testing for a wide variety of diagnostic tests. The platform is currently in clinical use for over 80 mutations or polymorphisms. Additionally to tests performed from blood samples, the system performs also epigenetic test for the methylation of the MGMT gene promoter, and companion diagnostic tests for analysis of KRAS and BRAF gene mutations from formalin fixed and paraffin embedded tumor samples. Automation of genetic test reporting is found reliable and efficient decreasing the work load of academic personnel.

A web-based test of residents' skills in diagnostic radiology

International Nuclear Information System (INIS)

Finlay, K.; Norman, G.R.; Keane, D.R.; Stolberg, H.

2006-01-01

To develop an objective, Web-based tool for evaluating residents' knowledge of diagnostic radiology. We developed and tested a Web-based evaluation tool (the Diagnostic Radiology Skills Test) that consists of 3 tests, one in each of 3 domains of diagnostic radiology: chest, gastrointestinal, and musculoskeletal imaging. Each test comprises 30 cases representing a range of difficulty in the domain, including normal states, normal variants, typical cases of common diagnoses, and cases with more subtle findings. Cases are presented with a long menu of domain-specific possible diagnoses (response options), each coded for diagnostic appropriateness. Our subjects were 21 residents in postgraduate year (PGY) 2 to 5 and 11 experts in diagnostic radiology. Subjects accessed the tool via a Web site on our Web server. Residents test results were compared for reliability and validity across domain, case, and training level. In addition, results were correlated with commonly used established and objective evaluation tools. The tool demonstrated consistent monotonic improvement in performance with training level. It showed acceptable reliability in discriminating between residents at different performance levels, both within and across training levels (r = 0.53 within level and 0.69 across levels). Test results also had concurrent validity against the American College of Radiology In-Training Examination, a widely accepted objective assessment tool (r = 0.65, P < 0.01), and 2 Objective Structured Clinical Examinations (OSCEs) focusing on diagnostic skills (r = 0.78 and r 0.69, P < 0.01, respectively). Our study demonstrates the feasibility of a Web-based, standardized, objective assessment method for evaluating residents' performance. (author)

Predictors of Inappropriate Use of Diagnostic Tests and Management of Bronchiolitis

Science.gov (United States)

Sarmiento, Lorena; Rojas-Soto, Gladys E.

2017-01-01

Background The aim of the present study was to determine predictors of inappropriate use of diagnostic tests and management of bronchiolitis in a population of hospitalized infants. Methods In an analytical cross-sectional study, we determined independent predictors of the inappropriate use of diagnostic tests and management of bronchiolitis in a population of hospitalized infants. We defined a composite outcome score as the main outcome variable. Results Of the 303 included patients, 216 (71.3%) experienced an inappropriate use of diagnostic tests and treatment of bronchiolitis. After controlling for potential confounders, it was found that atopic dermatitis (OR 5.30; CI 95% 1.14–24.79; p = 0.034), length of hospital stay (OR 1.48; CI 95% 1.08–2.03; p = 0.015), and the number of siblings (OR 1.92; CI 95% 1.13–3.26; p = 0.015) were independent predictors of an inappropriate use of diagnostic tests and treatment of the disease. Conclusions Inappropriate use of diagnostic tests and treatment of bronchiolitis was a highly prevalent outcome in our population of study. Participants with atopic dermatitis, a longer hospital stay, and a greater number of siblings were at increased risk for inappropriate use of diagnostic tests and management of the disease. PMID:28758127

Prenatal diagnostic evaluation of fetal ventricular dilatation by MRI; A report of eight cases

Energy Technology Data Exchange (ETDEWEB)

Kawabata, Ichiro; Tamaya, Teruhiko; Iwata, Tatsuo; Ando, Takashi; Yamada, Hiromu (Gifu Univ. (Japan). Faculty of Medicine)

1992-10-01

Recent advances in MRI have contributed to the antenatal confirmatory diagnosis of fetal anomalies, especially in the fetal brain and central nervous system. In this study, eight infants with fetal ventricular dilatation, suggested by prenatal ultrasonography, were evaluated with confirmatory diagnosis by MRI (SIGNA; General Electric Company, 1.5 tesla). These anomalies were demonstrated at 19 to 36 weeks by ultrasonography. One of the eight died in utero at 22 weeks of gestation, another one day after birth (33 weeks of gestation). Two were delivered by Cesarean section. It has been proved that clear and effective images can be obtained by mother's walking without sedative drugs. Fetal MRI gave clear images not only in fetal horizontal section, but also in sagittal section, which is usually difficult to obtain by ultrasonography. Confirmatory diagnosis of eight cases were obtained by MRI. Fetal MRI can provide an effective prenatal diagnosis, especially in cases of fetal brain anomaly, even when compared with postnatal CT findings. (author).

Prenatal stress alters amygdala functional connectivity in preterm neonates.

Science.gov (United States)

Scheinost, Dustin; Kwon, Soo Hyun; Lacadie, Cheryl; Sze, Gordon; Sinha, Rajita; Constable, R Todd; Ment, Laura R

2016-01-01

Exposure to prenatal and early-life stress results in alterations in neural connectivity and an increased risk for neuropsychiatric disorders. In particular, alterations in amygdala connectivity have emerged as a common effect across several recent studies. However, the impact of prenatal stress exposure on the functional organization of the amygdala has yet to be explored in the prematurely-born, a population at high risk for neuropsychiatric disorders. We test the hypothesis that preterm birth and prenatal exposure to maternal stress alter functional connectivity of the amygdala using two independent cohorts. The first cohort is used to establish the effects of preterm birth and consists of 12 very preterm neonates and 25 term controls, all without prenatal stress exposure. The second is analyzed to establish the effects of prenatal stress exposure and consists of 16 extremely preterm neonates with prenatal stress exposure and 10 extremely preterm neonates with no known prenatal stress exposure. Standard resting-state functional magnetic resonance imaging and seed connectivity methods are used. When compared to term controls, very preterm neonates show significantly reduced connectivity between the amygdala and the thalamus, the hypothalamus, the brainstem, and the insula (p amygdala and the thalamus, the hypothalamus, and the peristriate cortex (p amygdala connectivity associated with preterm birth. Functional connectivity from the amygdala to other subcortical regions is decreased in preterm neonates compared to term controls. In addition, these data, for the first time, suggest that prenatal stress exposure amplifies these decreases.

Non-invasive prenatal testing for fetal chromosome abnormalities: review of clinical and ethical issues.

Science.gov (United States)

Gekas, Jean; Langlois, Sylvie; Ravitsky, Vardit; Audibert, François; van den Berg, David Gradus; Haidar, Hazar; Rousseau, François

2016-01-01

Genomics-based non-invasive prenatal screening using cell-free DNA (cfDNA screening) was proposed to reduce the number of invasive procedures in current prenatal diagnosis for fetal aneuploidies. We review here the clinical and ethical issues of cfDNA screening. To date, it is not clear how cfDNA screening is going to impact the performances of clinical prenatal diagnosis and how it could be incorporated in real life. The direct marketing to users may have facilitated the early introduction of cfDNA screening into clinical practice despite limited evidence-based independent research data supporting this rapid shift. There is a need to address the most important ethical, legal, and social issues before its implementation in a mass setting. Its introduction might worsen current tendencies to neglect the reproductive autonomy of pregnant women.

Optimal Combinations of Diagnostic Tests Based on AUC.

Science.gov (United States)

Huang, Xin; Qin, Gengsheng; Fang, Yixin

2011-06-01

When several diagnostic tests are available, one can combine them to achieve better diagnostic accuracy. This article considers the optimal linear combination that maximizes the area under the receiver operating characteristic curve (AUC); the estimates of the combination's coefficients can be obtained via a nonparametric procedure. However, for estimating the AUC associated with the estimated coefficients, the apparent estimation by re-substitution is too optimistic. To adjust for the upward bias, several methods are proposed. Among them the cross-validation approach is especially advocated, and an approximated cross-validation is developed to reduce the computational cost. Furthermore, these proposed methods can be applied for variable selection to select important diagnostic tests. The proposed methods are examined through simulation studies and applications to three real examples. © 2010, The International Biometric Society.

Improving prescribing practices with rapid diagnostic tests (RDTs)

DEFF Research Database (Denmark)

Burchett, Helen E D; Leurent, Baptiste; Baiden, Frank

2017-01-01

OBJECTIVES: The overuse of antimalarial drugs is widespread. Effective methods to improve prescribing practice remain unclear. We evaluated the impact of 10 interventions that introduced rapid diagnostic tests for malaria (mRDTs) on the use of tests and adherence to results in different contexts...... packages, supervision, supplies and community sensitisation. OUTCOME MEASURES: Analysis explored variation in: (1) uptake of mRDTs (% febrile patients tested); (2) provider adherence to positive mRDTs (% Plasmodium falciparum positive prescribed/given Artemisinin Combination Treatment); (3) provider...... characteristics fitted with their own priorities. Goodness of fit of mRDTs with existing consultation and diagnostic practices appeared crucial to maximising the impact of mRDTs on care, as did prior familiarity with malaria testing; adequate human resources and supplies; possible alternative treatments for m...

Implementing non-invasive prenatal testing for aneuploidy in a national healthcare system: global challenges and national solutions.

Science.gov (United States)

van Schendel, Rachèl V; van El, Carla G; Pajkrt, Eva; Henneman, Lidewij; Cornel, Martina C

2017-09-19

Since the introduction of non-invasive prenatal testing (NIPT) in 2011, mainly by commercial companies, a growing demand for NIPT from the public and healthcare professionals has been putting pressure on the healthcare systems of various countries. This study identifies the challenges of establishing a responsible implementation of NIPT for aneuploidy in prenatal healthcare, by looking at the Netherlands. A mixed methods approach involving 13 stakeholder interviews, document analysis and (participatory) observations of the Dutch NIPT Consortium meetings were used. The Diffusion of Innovation Theory and a Network of Actors model were used to interpret the findings. Implementation of NIPT was facilitated by several factors. The set-up of a national NIPT Consortium enabled discussion and collaboration between stakeholders. Moreover, it led to the plan to offer NIPT through a nationwide research setting (TRIDENT studies), which created a learning phase for careful implementation. The Dutch legal context was perceived as a delaying factor, but eventually gave room for the parties involved to organise themselves and their practices. This study shows that implementing advanced technologies with profound effects on prenatal care benefit from a learning phase that allows time to carefully evaluate the technical performance and women's experiences and to enable public debate. Such a coordinated learning phase, involving all stakeholders, will stimulate the process of responsible and sustainable implementation.

Drug sensitivity testing platforms for gastric cancer diagnostics.

Science.gov (United States)

Lau, Vianne; Wong, Andrea Li-Ann; Ng, Christopher; Mok, Yingting; Lakshmanan, Manikandan; Yan, Benedict

2016-02-01

Gastric cancer diagnostics has traditionally been histomorphological and primarily the domain of surgical pathologists. Although there is an increasing usage of molecular and genomic techniques for clinical diagnostics, there is an emerging field of personalised drug sensitivity testing. In this review, we describe the various personalised drug sensitivity testing platforms and discuss the challenges facing clinical adoption of these assays for gastric cancer. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

Health behaviour modelling for prenatal diagnosis in Australia: a geodemographic framework for health service utilisation and policy development

Directory of Open Access Journals (Sweden)

Halliday Jane L

2006-09-01

Full Text Available Abstract Background Despite the wide availability of prenatal screening and diagnosis, a number of studies have reported no decrease in the rate of babies born with Down syndrome. The objective of this study was to investigate the geodemographic characteristics of women who have prenatal diagnosis in Victoria, Australia, by applying a novel consumer behaviour modelling technique in the analysis of health data. Methods A descriptive analysis of data on all prenatal diagnostic tests, births (1998 and 2002 and births of babies with Down syndrome (1998 to 2002 was undertaken using a Geographic Information System and socioeconomic lifestyle segmentation classifications. Results Most metropolitan women in Victoria have average or above State average levels of uptake of prenatal diagnosis. Inner city women residing in high socioeconomic lifestyle segments who have high rates of prenatal diagnosis spend 20% more on specialist physician's fees when compared to those whose rates are average. Rates of prenatal diagnosis are generally low amongst women in rural Victoria, with the lowest rates observed in farming districts. Reasons for this are likely to be a combination of lack of access to services (remoteness and individual opportunity (lack of transportation, low levels of support and income. However, there are additional reasons for low uptake rates in farming areas that could not be explained by the behaviour modelling. These may relate to women's attitudes and choices. Conclusion A lack of statewide geodemographic consistency in uptake of prenatal diagnosis implies that there is a need to target health professionals and pregnant women in specific areas to ensure there is increased equity of access to services and that all pregnant women can make informed choices that are best for them. Equally as important is appropriate health service provision for families of children with Down syndrome. Our findings show that these potential interventions are

Expectations and satisfaction of pregnant women: unveiling prenatal care in primary care.

Science.gov (United States)

Aparecida Maciel Cardelli, Alexandrina; Li Marrero, Tai; Aparecida Pimenta Ferrari, Rosângela; Trevisan Martins, Júlia; Serafim, Deise

2016-06-01

To analyze the perception of primiparous women about prenatal care in Basic Health Units in a municipality in southern Brazil. This is a qualitative research from the perspective of Social Representation Theory, from the following question: How has been the pre-natal care for you? Eighteen pregnant women were interviewed. The analysis resulted in three categories: Expectation representation about prenatal care; Rescuing the care offered in prenatal consultation; Unveiling the (dis) satisfaction with prenatal consultation. The prenatal care was apprehended as an essential moment for safe pregnancy, although centered on the doctor's figure and guarantee access to early laboratory and imaging tests. On the other hand, dissatisfaction was revealed from the reception at the entrance to the health unit to the consultations access, although some statements suggest timely satisfaction. Prenatal care did not meet the specific expectations of the study group and unveiled that the nurse did not supply it, as a member of the multidisciplinary team. The organization of the nursing work process in primary care, related to prenatal care, needs to be revisited to promote the effectiveness of its actions.

Nonparametric predictive inference for combining diagnostic tests with parametric copula

Science.gov (United States)

Muhammad, Noryanti; Coolen, F. P. A.; Coolen-Maturi, T.

2017-09-01

Measuring the accuracy of diagnostic tests is crucial in many application areas including medicine and health care. The Receiver Operating Characteristic (ROC) curve is a popular statistical tool for describing the performance of diagnostic tests. The area under the ROC curve (AUC) is often used as a measure of the overall performance of the diagnostic test. In this paper, we interest in developing strategies for combining test results in order to increase the diagnostic accuracy. We introduce nonparametric predictive inference (NPI) for combining two diagnostic test results with considering dependence structure using parametric copula. NPI is a frequentist statistical framework for inference on a future observation based on past data observations. NPI uses lower and upper probabilities to quantify uncertainty and is based on only a few modelling assumptions. While copula is a well-known statistical concept for modelling dependence of random variables. A copula is a joint distribution function whose marginals are all uniformly distributed and it can be used to model the dependence separately from the marginal distributions. In this research, we estimate the copula density using a parametric method which is maximum likelihood estimator (MLE). We investigate the performance of this proposed method via data sets from the literature and discuss results to show how our method performs for different family of copulas. Finally, we briefly outline related challenges and opportunities for future research.

ITER diagnostics: Maintenance and commissioning in the hot cell test bed

International Nuclear Information System (INIS)

Walker, C.I.; Barnsley, R.; Costley, A.E.; Gottfried, R.; Haist, B.; Itami, K.; Kondoh, T.; Loesser, G.D.; Palmer, J.; Sugie, T.; Tesini, A.; Vayakis, G.

2005-01-01

In-vessel diagnostic equipment in ITER integrated in six equatorial and 12 upper ports, 16 divertor cassettes and five lower ports is designed to be removed in modules and then repaired, tested and commissioned in the same location at the ITER hot cell. The repair requirements and tests on these components are described along with design features that facilitate repair. The testing establishes the repair strategy, qualifies the refurbishment work and finally checks the mechanical and diagnostic function before the return of the modules. At the hot cell, a dummy port is provided for tests of mechanical and vacuum integrity as well as commissioning of the diagnostic equipment. The scope of the hot cell maintenance and commissioning activities is summarised and an overview of the integration of the diagnostic equipment is given

Long-term effects of prenatal x-ray of human females: reproductive experience

International Nuclear Information System (INIS)

Meyer, M.B.; Tonascia, J.

1981-01-01

A cohort of singleton black human females exposed to diagnostic x-ray in utero and controls matched by parity, hospital of birth and birthdate have been followed to ages 25 to 30 years in Baltimore, Maryland. The search for possible effects of prenatal irradiation has focused on health, growth, development, and reproductive experience of exposed and control women. This paper reports findings related to reproductive experience. From an original data set of 1458 matched exposed-control pairs of women, questionnaire responses were received from 1109 exposed and 1124 control women including 852 each from pairs in which both the exposed and control woman responded. After careful search for alternative explanations of the findings, the authors concluded that females exposed in utero to low doses of x-ray (probably 1 to 5 rads) had significant increases in their rates of early onset of menses, births at age 15 years or less, numbers of living children, stillbirths, and sterilizing operations by their mid-twenties. These findings are compatible with animal studies in which prenatal irradiation kills many oocytes, but accelerates the development of remaining cells to stages more closely correlated with fertility. Although these animals subsequently became sterile, this cannot be tested in the current study because significantly more of the irradiated women have had surgical sterilizations

Pre-analytical conditions in non-invasive prenatal testing of cell-free fetal RHD.

Directory of Open Access Journals (Sweden)

Frederik Banch Clausen

Full Text Available Non-invasive prenatal testing of cell-free fetal DNA (cffDNA in maternal plasma can predict the fetal RhD type in D negative pregnant women. In Denmark, routine antenatal screening for the fetal RhD gene (RHD directs the administration of antenatal anti-D prophylaxis only to women who carry an RhD positive fetus. Prophylaxis reduces the risk of immunization that may lead to hemolytic disease of the fetus and the newborn. The reliability of predicting the fetal RhD type depends on pre-analytical factors and assay sensitivity. We evaluated the testing setup in the Capital Region of Denmark, based on data from routine antenatal RHD screening.Blood samples were drawn at gestational age 25 weeks. DNA extracted from 1 mL of plasma was analyzed for fetal RHD using a duplex method for exon 7/10. We investigated the effect of blood sample transportation time (n = 110 and ambient outdoor temperatures (n = 1539 on the levels of cffDNA and total DNA. We compared two different quantification methods, the delta Ct method and a universal standard curve. PCR pipetting was compared on two systems (n = 104.The cffDNA level was unaffected by blood sample transportation for up to 9 days and by ambient outdoor temperatures ranging from -10 °C to 28 °C during transport. The universal standard curve was applicable for cffDNA quantification. Identical levels of cffDNA were observed using the two automated PCR pipetting systems. We detected a mean of 100 fetal DNA copies/mL at a median gestational age of 25 weeks (range 10-39, n = 1317.The setup for real-time PCR-based, non-invasive prenatal testing of cffDNA in the Capital Region of Denmark is very robust. Our findings regarding the transportation of blood samples demonstrate the high stability of cffDNA. The applicability of a universal standard curve facilitates easy cffDNA quantification.

The Prenatal Care at School Program

Science.gov (United States)

Griswold, Carol H.; Nasso, Jacqueline T.; Swider, Susan; Ellison, Brenda R.; Griswold, Daniel L.; Brooks, Marilyn

2013-01-01

School absenteeism and poor compliance with prenatal appointments are concerns for pregnant teens. The Prenatal Care at School (PAS) program is a new model of prenatal care involving local health care providers and school personnel to reduce the need for students to leave school for prenatal care. The program combines prenatal care and education…

Pre-natal genetic counselling in a resource limited country - a single center geneticist's perspectives

International Nuclear Information System (INIS)

Afroze, B.; Jehan, F.

2014-01-01

Objective: To assess the needs related to prenatal genetic counselling in a developing country. Methods: The prospective observational study was conducted at the Prenatal-Genetic Counselling Clinic of Aga Khan University Hospital, Karachi, from October 2007 to September 2010. In-depth interviews were conducted and the data was stored in the form of patient charts. Information was then extracted from the charts and entered into a structured questionnaire. Results: Of the 93 couples in the study, 49(53%) were in the self-referral group and 44(47%) were in the physician-referral group. Diagnosis was not given for previously affected children by the paediatrician or by obstetrician for recurrent miscarriages in 68(73%)cases. Besides, 20(22%) couples had voluntarily terminated a pregnancy without any tests because of the fear of having a diseased child. Eleven (12%) couples were looking for amniocentensis or chorionic villus sampling. Death in previous children was the main reason to seek genetic counselling and was seen in 57(61%) couples. Consanguinity was seen in 77(83%) couples. Conclusion: A clear deficiency of knowledge of genetics was seen among the non-genetic healthcare providers. Demand of antenatal genetic testing among the public was also seen, highlighting the need of diagnostic facility for genetic and metabolic disorders. However, this needs to be explored in the context of the existing healthcare infrastructure. (author)

New Advances of Preimplantation and Prenatal Genetic Screening and Noninvasive Testing as a Potential Predictor of Health Status of Babies

Directory of Open Access Journals (Sweden)

Tanya Milachich

2014-01-01

Full Text Available The current morphologically based selection of human embryos for transfer cannot detect chromosome aneuploidies. So far, only biopsy techniques have been able to screen for chromosomal aneuploidies in the in vitro fertilization (IVF embryos. Preimplantation genetic diagnosis (PGD or screening (PGS involves the biopsy of oocyte polar bodies or embryonic cells and has become a routine clinical procedure in many IVF clinics worldwide, including recent development of comprehensive chromosome screening of all 23 pairs of chromosomes by microarrays for aneuploidy screening. The routine preimplantation and prenatal genetic diagnosis (PND require testing in an aggressive manner. These procedures may be invasive to the growing embryo and fetus and potentially could compromise the clinical outcome. Therefore the aim of this review is to summarize not only the new knowledge on preimplantation and prenatal genetic diagnosis in humans, but also on the development of potential noninvasive embryo and fetal testing that might play an important role in the future.

New Advances of Preimplantation and Prenatal Genetic Screening and Noninvasive Testing as a Potential Predictor of Health Status of Babies

Science.gov (United States)

2014-01-01

The current morphologically based selection of human embryos for transfer cannot detect chromosome aneuploidies. So far, only biopsy techniques have been able to screen for chromosomal aneuploidies in the in vitro fertilization (IVF) embryos. Preimplantation genetic diagnosis (PGD) or screening (PGS) involves the biopsy of oocyte polar bodies or embryonic cells and has become a routine clinical procedure in many IVF clinics worldwide, including recent development of comprehensive chromosome screening of all 23 pairs of chromosomes by microarrays for aneuploidy screening. The routine preimplantation and prenatal genetic diagnosis (PND) require testing in an aggressive manner. These procedures may be invasive to the growing embryo and fetus and potentially could compromise the clinical outcome. Therefore the aim of this review is to summarize not only the new knowledge on preimplantation and prenatal genetic diagnosis in humans, but also on the development of potential noninvasive embryo and fetal testing that might play an important role in the future. PMID:24783200

Diagnostic reliability of MMPI-2 computer-based test interpretations.

Science.gov (United States)

Pant, Hina; McCabe, Brian J; Deskovitz, Mark A; Weed, Nathan C; Williams, John E

2014-09-01

Reflecting the common use of the MMPI-2 to provide diagnostic considerations, computer-based test interpretations (CBTIs) also typically offer diagnostic suggestions. However, these diagnostic suggestions can sometimes be shown to vary widely across different CBTI programs even for identical MMPI-2 profiles. The present study evaluated the diagnostic reliability of 6 commercially available CBTIs using a 20-item Q-sort task developed for this study. Four raters each sorted diagnostic classifications based on these 6 CBTI reports for 20 MMPI-2 profiles. Two questions were addressed. First, do users of CBTIs understand the diagnostic information contained within the reports similarly? Overall, diagnostic sorts of the CBTIs showed moderate inter-interpreter diagnostic reliability (mean r = .56), with sorts for the 1/2/3 profile showing the highest inter-interpreter diagnostic reliability (mean r = .67). Second, do different CBTIs programs vary with respect to diagnostic suggestions? It was found that diagnostic sorts of the CBTIs had a mean inter-CBTI diagnostic reliability of r = .56, indicating moderate but not strong agreement across CBTIs in terms of diagnostic suggestions. The strongest inter-CBTI diagnostic agreement was found for sorts of the 1/2/3 profile CBTIs (mean r = .71). Limitations and future directions are discussed. PsycINFO Database Record (c) 2014 APA, all rights reserved.

Effect on intelligence test score of prenatal exposure to ionizing radiation in Hiroshima and Nagasaki

International Nuclear Information System (INIS)

Schull, W.J.; Otake, Masanori; Yoshimaru, Hiroshi.

1988-10-01

Analyses of intelligence test scores (Koga) at 10-11 years of age of individuals exposed prenatally to the atomic bombing of Hiroshima and Nagasaki using estimates of the uterine absorbed dose based on the recently introduced system of dosimetry, the Dosimetry System 1986 (DS86), reveal the following: 1) there is no evidence of a radiation-related effect on intelligence among those individuals exposed within 0-7 weeks after fertilization or in the 26th or subsequent weeks; 2) for individuals exposed at 8-15 weeks after fertilization, and to a lesser extent those exposed at 16-25 weeks, the mean tests scores but not the variances are significantly heterogeneous among exposure categories; 3) the cumulative distribution of test scores suggests a progressive shift downwards in individual scores with increasing exposure; and 4) within the group most sensitive to the occurrence of clinically recognizable severe mental retardation, individuals exposed 8 through 15 weeks after fertilization, the regression of intelligence score on estimated DS86 uterine absorbed dose is more linear than with T65DR fetal dose, the diminution in intelligence score under the linear model is 21-29 points at 1Gy. The effect is somewhat greater when the controls receiving less than 0.01 Gy are excluded, 24-33 points at 1 Gy. These findings are discussed in the light of the earlier analysis of the frequency of occurrence of mental retardation among the prenatally exposed survivors of the A-bombing of Hiroshima and Nagasaki. It is suggested that both are the consequences of the same underlying biological process or processes. (author)

Prenatal Care Checkup

Science.gov (United States)

... Careers Archives Health Topics Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal care Is it safe? Labor & ... Report Cards Careers Archives Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal care Is it safe? Labor & ...

A diagnostic test for apraxia in stroke patients: internal consistency and diagnostic value.

NARCIS (Netherlands)

Heugten, C.M. van; Dekker, J.; Deelman, B.G.; Stehmann-Saris, F.C.; Kinebanian, A.

1999-01-01

The internal consistency and the diagnostic value of a test for apraxia in patients having had a stroke are presented. Results indicate that the items of the test form a strong and consistent scale: Cronbach's alpha as well as the results of a Mokken scale analysis present good reliability and good

Analysis of the Astronomy Diagnostic Test

Science.gov (United States)

Brogt, Erik; Sabers, Darrell; Prather, Edward E.; Deming, Grace L.; Hufnagel, Beth; Slater, Timothy F.

2007-01-01

Seventy undergraduate class sections were examined from the database of Astronomy Diagnostic Test (ADT) results of Deming and Hufnagel to determine if course format correlated with ADT normalized gain scores. Normalized gains were calculated for four different classroom scenarios: lecture, lecture with discussion, lecture with lab, and lecture…

Prenatal coke: what's behind the smoke? Prenatal cocaine/alcohol exposure and school-age outcomes: the SCHOO-BE experience.

Science.gov (United States)

Delaney-Black, V; Covington, C; Templin, T; Ager, J; Martier, S; Compton, S; Sokol, R

1998-06-21

composed of over 600 first grade students for whom the independent variables, prenatal cocaine/alcohol exposures, were prospectively assessed and quantified at the university maternity center. After informed consent, the primary dependent variable, school behavior, is assessed, using the PROBS-14 (a teacher consensus developed instrument), the Child Behavior Check List, and the Conners' Teacher Rating Scale. The secondary dependent measure, school achievement, is measured by the Metropolitan Achievement Text and the Test of Early Reading Ability. Control variables, such as the environment and parenting, are measured by several instruments aimed at capturing the child and family ecology since birth. All analyses will be adjusted as appropriate for prospectively gathered control variables such as perinatal risk, neonatal risk, and other prenatal drug and cigarette exposures. Further adjustment will be made for postnatal social risk factors which may influence outcome. Of particular concern are characteristics of the home (adaptation of HOME), parent (depression, stress), and neighborhood (violence exposure). Finally, postnatal exposure to lead and other drugs is being considered.

Prenatal Coke: What's Behind the Smoke?: Prenatal Cocaine/Alcohol Exposure and School-Age Outcomes: The SCHOO-BE Experiencea.

Science.gov (United States)

Delaney-Black, Virginia; Covington, Chandice; Templin, Tom; Ager, Joel; Martier, Sue; Compton, Scott; Sokol, Robert

1998-06-01

of over 600 first grade students for whom the independent variables, prenatal cocaine/alcohol exposures, were prospectively assessed and quantified at the university maternity center. After informed consent, the primary dependent variable, school behavior, is assessed, using the PROBS-14 (a teacher consensus developed instrument), the Child Behavior Check List, and the Conners' Teacher Rating Scale. The secondary dependent measure, school achievement, is measured by the Metropolitan Achievement Text and the Test of Early Reading Ability. Control variables, such as the environment and parenting, are measured by several instruments aimed at capturing the child and family ecology since birth. All analyses will be adjusted as appropriate for prospectively gathered control variables such as perinatal risk, neonatal risk, and other prenatal drug and cigarette exposures. Further adjustment will be made for postnatal social risk factors which may influence outcome. Of particular concern are characteristics of the home (adaptation of HOME), parent (depression, stress), and neighborhood (violence exposure). Finally, postnatal exposure to lead and other drugs is being considered.

Diagnostic development and support of MHD test facilities

Energy Technology Data Exchange (ETDEWEB)

1990-01-01

The Diagnostic Instrumentation and Analysis Laboratory (DIAL) at Mississippi State University (MSU) is developing diagnostic instruments for MHD power train data acquisition and for support of MHD component development test facilities. Microprocessor-controlled optical instruments, initially developed for Heat Recovery/Seed Recovery support, are being refined, and new systems to measure temperatures and gas-seed-slag stream characteristics are being developed. To further data acquisition and analysis capabilities, the diagnostic systems are being interfaced with DIAL's computers. Technical support for the diagnostic needs of the national MHD research effort is being provided. DIAL personnel will also cooperate with government agencies and private industries to improve the transformation of research and development results into processes, products and services applicable to their needs. 25 figs., 6 tabs.

Diagnostic development and support of MHD test facilities

International Nuclear Information System (INIS)

Shepard, W.S.; Cook, R.L.

1990-01-01

The Diagnostic Instrumentation and Analysis Laboratory (DIAL) at Mississippi State University (MSU) is developing diagnostic instruments for MHD power train data acquisition and for support of MHD component development test facilities. Microprocessor-controlled optical instruments, initially developed for Heat Recovery/ Seed Recovery support, are being refined, and new systems to measure temperatures and gas-seed-slag stream characteristics are being developed. To further data acquisition and analysis capabilities, the diagnostic systems are being interfaced with DIAL's computers. Technical support for the diagnostic needs of the national MHD research effort is being provided. DIAL personnel will also cooperate with government agencies and private industries to improve the transformation of research and development results into processes, products and services applicable to their needs

Low dose prenatal alcohol exposure does not impair spatial learning and memory in two tests in adult and aged rats.

Directory of Open Access Journals (Sweden)

Carlie L Cullen

Full Text Available Consumption of alcohol during pregnancy can have detrimental impacts on the developing hippocampus, which can lead to deficits in learning and memory function. Although high levels of alcohol exposure can lead to severe deficits, there is a lack of research examining the effects of low levels of exposure. This study used a rat model to determine if prenatal exposure to chronic low dose ethanol would result in deficits in learning and memory performance and if this was associated with morphological changes within the hippocampus. Sprague Dawley rats were fed a liquid diet containing 6% (vol/vol ethanol (EtOH or an isocaloric control diet throughout gestation. Male and Female offspring underwent behavioural testing at 8 (Adult or 15 months (Aged of age. Brains from these animals were collected for stereological analysis of pyramidal neuron number and dendritic morphology within the CA1 and CA3 regions of the dorsal hippocampus. Prenatal ethanol exposed animals did not differ in spatial learning or memory performance in the Morris water maze or Y maze tasks compared to Control offspring. There was no effect of prenatal ethanol exposure on pyramidal cell number or density within the dorsal hippocampus. Overall, this study indicates that chronic low dose prenatal ethanol exposure in this model does not have long term detrimental effects on pyramidal cells within the dorsal hippocampus or impair spatial learning and memory performance.

Open source non-invasive prenatal testing platform and its performance in a public health laboratory

DEFF Research Database (Denmark)

Johansen, Peter; Richter, Stine R; Balslev-Harder, Marie

2016-01-01

OBJECTIVE: The objective of this study was to introduce non-invasive prenatal testing (NIPT) for fetal autosomal trisomies and gender in a Danish public health setting, using semi-conductor sequencing and published open source scripts for analysis. METHODS: Plasma-derived DNA from a total of 375...... correlation (R(2)  = 0.72) to Y-chromosomal content of the male fetus samples. DISCUSSION: We have implemented NIPT into Danish health care using published open source scripts for autosomal aneuploidy detection and fetal DNA fraction estimation showing excellent false negative and false positive rates. Seq...

Prenatal imaging of amniotic band sequence: utility and role of fetal MRI as an adjunct to prenatal US

International Nuclear Information System (INIS)

Neuman, Jeremy; Calvo-Garcia, Maria A.; Kline-Fath, Beth M.; Bitters, Constance; Merrow, Arnold C.; Guimaraes, Carolina V.A.; Lim, Foong-Yen

2012-01-01

Amniotic band sequence and its US manifestations have been well-described. There is little information, however, regarding the accuracy and utility of fetal MRI. To describe the MRI findings in amniotic band sequence and to compare the diagnostic accuracy of MRI and US. Prenatal MRI and US studies were retrospectively reviewed in 14 consecutive pregnancies with confirmed amniotic band sequence. Both studies were evaluated for amniotic band visualization, body part affected, type of deformity, umbilical cord involvement and vascular abnormality. Amniotic bands were confidently identified with MRI in 8 fetuses (57%), suggested with MRI in 3 fetuses (21%) and confidently seen by US in 13 fetuses (93%). Neither modality detected surgically proven bands on one fetus. Both techniques were equally able to define the body part affected and the type of deformity. At least one limb abnormality was visualized in all cases and truncal involvement was present in two cases. Cord involvement was identified in seven cases, with one case detected only by MRI. Fetal MRI is able to visualize amniotic bands and their secondary manifestations and could be complementary to prenatal US when fetal surgery is contemplated. (orig.)

Prenatal and Perinatal Morbidity in Children with Tic Disorders: A Mainstream School-based Population Study in Central Spain

Directory of Open Access Journals (Sweden)

Esther Cubo

2014-12-01

Full Text Available Background: While current research suggests that genetic factors confer the greatest risk for the development of tic disorders, studies of environmental factors are relatively few, with a lack of consistent risk factors across studies. Our aim is to analyze the association of tic disorders with exposure to prenatal and perinatal morbidity. Methods: This was a nested case–control study design. Cases and controls were selected and identified from a mainstream, school-based sample. The diagnosis of tic disorders was assigned by a movement disorder neurologist using ‘Diagnostic and statistical manual of mental disorders, 4th edition, text revision’ criteria, and neuropsychiatric comorbidities were screened using the Spanish computerized version of the Diagnostic Interview Schedule for Children Predictive Scale. Information regarding the exposure to pre-perinatal risk factors was collected by a retrospective review of the birth certificates. Logistic regression analyses were then performed to test the association of tic disorders with pre-perinatal risk factors.Results: Out of 407 participants, complete pre-perinatal data were available in 153 children (64 with tics and 89 without tics;. After adjusting for family history of tics, neonatal respiratory distress syndrome, body mass index, prenatal infection, and coexisting comorbid neuropsychiatric disturbances, tic disorders were associated with prenatal exposure to tobacco (odds ratio [OR] = 3.07, 95% confidence interval [CI] 1.24–7.60, p = 0.007, and cesarean section (OR = 5.78, 95% CI 1.60–20.91, p = 0.01.Discussion: This nested case–control study of children with tic disorders demonstrates higher adjusted odds for tics in children with exposure to cesarean delivery and maternal smoking. Longitudinal, population-based samples are required to confirm these results.

Prenatal stressors in rodents: Effects on behavior

Directory of Open Access Journals (Sweden)

Marta Weinstock

2017-02-01

Full Text Available The current review focuses on studies in rodents published since 2008 and explores possible reasons for any differences they report in the effects of gestational stress on various types of behavior in the offspring. An abundance of experimental data shows that different maternal stressors in rodents can replicate some of the abnormalities in offspring behavior observed in humans. These include, anxiety, in juvenile and adult rats and mice, assessed in the elevated plus maze and open field tests and depression, detected in the forced swim and sucrose-preference tests. Deficits were reported in social interaction that is suggestive of pathology associated with schizophrenia, and in spatial learning and memory in adult rats in the Morris water maze test, but in most studies only males were tested. There were too few studies on the novel object recognition test at different inter-trial intervals to enable a conclusion about the effect of prenatal stress and whether any deficits are more prevalent in males. Among hippocampal glutamate receptors, NR2B was the only subtype consistently reduced in association with learning deficits. However, like in humans with schizophrenia and depression, prenatal stress lowered hippocampal levels of BDNF, which were closely correlated with decreases in hippocampal long-term potentiation. In mice, down-regulation of BDNF appeared to occur through the action of gene-methylating enzymes that are already increased above controls in prenatally-stressed neonates. In conclusion, the data obtained so far from experiments in rodents lend support to a physiological basis for the neurodevelopmental hypothesis of schizophrenia and depression.

Expectations and satisfaction of pregnant women: unveiling prenatal care in primary care

Directory of Open Access Journals (Sweden)

Alexandrina Aparecida Maciel Cardelli

Full Text Available Objective.To analyze the perception of primiparous women about prenatal care in Basic Health Units in a municipality in southern Brazil. Methods. This is a qualitative research from the perspective of Social Representation Theory, from the following question: How has been the pre-natal care for you? Eighteen pregnant women were interviewed. Results. The analysis resulted in three categories: Expectation representation about prenatal care; Rescuing the care offered in prenatal consultation; Unveiling the (dis satisfaction with prenatal consultation. The prenatal care was apprehended as an essential moment for safe pregnancy, although centered on the doctor's figure and guarantee access to early laboratory and imaging tests. On the other hand, dissatisfaction was revealed from the reception at the entrance to the health unit to the consultations access, although some statements suggest timely satisfaction. Conclusion. Prenatal care did not meet the specific expectations of the study group and unveiled that the nurse did not supply it, as a member of the multidisciplinary team. The organization of the nursing work process in primary care, related to prenatal care, needs to be revisited to promote the effectiveness of its actions.

[Normative prenatal evaluation at a philanthropic maternity hospital in São Paulo].

Science.gov (United States)

Corrêa, Claudia Regina Hostim; Bonadio, Isabel Cristina; Tsunechiro, Maria Alice

2011-12-01

This cross-sectional study counted with the participation of 301 pregnant women seen in 2009 at a philanthropic maternity hospital in the city of São Paulo (a prenatal support program named Pré-Natal do Amparo Maternal - PN-AM). The objectives of this study were to evaluate the prenatal care according to the initial gestational age, the number of appointments that were held, the continuity of the assistance, and relate the appropriateness with the socio-demographic, obstetric and local variables of the initial prenatal care. The analysis criteria used was initiating prenatal care before 120 days of gestation and attending at least six appointments. The relationship between the variables was analyzed using the Chi-Square Test. Results showed that 41.5% of the pregnant women initiated prenatal care at another health care service and transferred spontaneously to the PN-AM; 74.1% initiated the prenatal care early and 80.4% attended at least six appointments; 63.1% met both criteria simultaneously. Appropriate prenatal care showed a statistically significant difference for mother's age, steady partner, employment, place of residence, having a companion during the appointment and place where prenatal care was initiated.

9 CFR 147.8 - Procedures for preparing egg yolk samples for diagnostic tests.

Science.gov (United States)

2010-01-01

... samples for diagnostic tests. 147.8 Section 147.8 Animals and Animal Products ANIMAL AND PLANT HEALTH... IMPROVEMENT PLAN Blood Testing Procedures § 147.8 Procedures for preparing egg yolk samples for diagnostic... for diagnostic testing. (b) The authorized laboratory must identify each egg as to the breeding flock...

Rapid diagnostic tests for typhoid and paratyphoid (enteric) fever.

Science.gov (United States)

Wijedoru, Lalith; Mallett, Sue; Parry, Christopher M

2017-05-26

Differentiating both typhoid (Salmonella Typhi) and paratyphoid (Salmonella Paratyphi A) infection from other causes of fever in endemic areas is a diagnostic challenge. Although commercial point-of-care rapid diagnostic tests (RDTs) for enteric fever are available as alternatives to the current reference standard test of blood or bone marrow culture, or to the widely used Widal Test, their diagnostic accuracy is unclear. If accurate, they could potentially replace blood culture as the World Health Organization (WHO)-recommended main diagnostic test for enteric fever. To assess the diagnostic accuracy of commercially available rapid diagnostic tests (RDTs) and prototypes for detecting Salmonella Typhi or Paratyphi A infection in symptomatic persons living in endemic areas. We searched the Cochrane Infectious Diseases Group Specialized Register, MEDLINE, Embase, Science Citation Index, IndMED, African Index Medicus, LILACS, ClinicalTrials.gov, and the World Health Organization (WHO) International Clinical Trials Registry Platform (ICTRP) up to 4 March 2016. We manually searched WHO reports, and papers from international conferences on Salmonella infections. We also contacted test manufacturers to identify studies. We included diagnostic accuracy studies of enteric fever RDTs in patients with fever or with symptoms suggestive of enteric fever living in endemic areas. We classified the reference standard used as either Grade 1 (result from a blood culture and a bone marrow culture) or Grade 2 (result from blood culture and blood polymerase chain reaction, or from blood culture alone). Two review authors independently extracted the test result data. We used a modified QUADAS-2 extraction form to assess methodological quality. We performed a meta-analysis when there were sufficient studies for the test and heterogeneity was reasonable. Thirty-seven studies met the inclusion criteria and included a total of 5080 participants (range 50 to 1732). Enteric fever prevalence

Antiphospholipid Syndrome Laboratory Testing and Diagnostic Strategies

Science.gov (United States)

Ortel, Thomas L.

2016-01-01

The Antiphospholipid Syndrome (APS) is diagnosed in patients with recurrent thromboembolic events and/or pregnancy loss in the presence of persistent laboratory evidence for antiphospholipid antibodies. Diagnostic tests for the detection of antiphospholipid antibodies include laboratory assays that detect anticardiolipin antibodies, lupus anticoagulants, and anti-β2-glycoprotein I antibodies. These assays have their origins beginning more than sixty years ago, with the identification of the biologic false positive test for syphilis, the observation of ‘circulating anticoagulants’ in certain patients with systemic lupus erythematosus, the identification of cardiolipin as a key component in the serologic test for syphilis, and the recognition and characterization of a ‘cofactor’ for antibody binding to phospholipids. Although these assays have been used clinically for many years, there are still problems with the accurate diagnosis of patients with this syndrome. For example, lupus anticoagulant testing can be difficult to interpret in patients receiving anticoagulant therapy, but most patients with a thromboembolic event will already be anticoagulated before the decision to perform the tests has been made. In addition to understanding limitations of the assays, clinicians also need to be aware of which patients should be tested and not obtain testing on patients unlikely to have APS. New tests and diagnostic strategies are in various stages of development and should help improve our ability to accurately diagnose this important clinical disorder. PMID:22473619

30 CFR 250.522 - When do I have to repeat casing diagnostic testing?

Science.gov (United States)

2010-07-01

... 30 Mineral Resources 2 2010-07-01 2010-07-01 false When do I have to repeat casing diagnostic... Operations Casing Pressure Management § 250.522 When do I have to repeat casing diagnostic testing? Casing diagnostic testing must be repeated according to the following table: When * * * you must repeat diagnostic...

Preconception Care and Prenatal Care

Science.gov (United States)

... Twitter Pinterest Email Print About Preconception Care and Prenatal Care What is preconception care? Preconception care is the ... improve the health of your child. What is prenatal care? Prenatal care is the health care a woman ...

What Happens during Prenatal Visits?

Science.gov (United States)

... smoke, drink, or take drugs, and whether you exercise regularly. Ask about your stress level. Perform prenatal blood tests to do the ... increased risk of health problems during pregnancy? Will stress during pregnancy affect my ... minerals linked to problem with ovulation Release: Elevated blood pressure before pregnancy may increase chance ...

Prenatal screening, diagnosis, and pregnancy management of fetal neural tube defects.

Science.gov (United States)

Wilson, R Douglas

2014-10-01

To provide obstetrical and genetic health care practitioners with guidelines and recommendations for prenatal screening, diagnosis, and obstetrical management of fetal open and closed neural tube defects (OCNTD). This review includes prenatal screening and diagnostic techniques currently being used for the detection of OCNTD including maternal serum alpha fetoprotein screening, ultrasound, fetal magnetic resonance imaging, and amniocentesis. To improve prenatal screening, diagnosis, and obstetrical management of OCNTD while taking into consideration patient care, efficacy, cost, and care procedures. Published literature was retrieved through searches of PubMed or MEDLINE, CINAHL, and The Cochrane Library in November, 2013, using appropriate controlled vocabulary and key words (e.g., prenatal screening, congenital anomalies, neural tube defects, alpha fetoprotein, ultrasound scan, magnetic resonance imaging). Results were restricted to systematic reviews, randomized control trials/controlled clinical trials, and observational studies published in English from 1977 to 2012. Searches were updated on a regular basis and incorporated in the guideline to November 30, 2013. Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical specialty societies. An online survey of health care practitioners was also reviewed. The quality of evidence in this document was rated using the criteria described in the Report of the Canadian Task Force on Preventive Health Care (Table). This review will provide health care practitioners with a better understanding of the available prenatal screening methods for OCNTD and the benefits and risks associated with each technique to allow evidenced-based decisions on OCNTD screening, diagnosis, and obstetrical management.

Prenatal suspicion and postnatal diagnosis of urinary tract malformation in children

International Nuclear Information System (INIS)

Krzemien, G.; Roszkowska-Blaim, M.; Szmigielska, A.; Wojnar, J.; Kostro, I.; Sekowska, R.; Karpinska, M.; Madzik, J.; Biejat, A.; Majkowska, Z.; Marcinski, A.

2005-01-01

Introduction of prenatal ultrasonography (USG) in fetus diagnostic caused early detection of congenital urinary tract abnormalities. Dilatation of renal pelvis, which is detected in ultrasonography from 16 week of gestational age is the most common abnormality in fetal urinary tract. The aim of the study was to assess the frequency of congenital abnormalities in urinary tract in children with prenatal suspicion of anomalies. The retrospective study included 100 children with prenatal suspicion of congenital abnormalities in urinary tract. Changes in urinary tract were detected in ultrasonography between 18-41 (mean 32,6±5,6) week of gestational age. Unilateral dilatation of urinary tract was found in 57% fetuses, bilateral dilatation in 31%, others anomalies in 12% fetuses. Ultrasonography of urinary tract was done in all children in 1-122 (mean 17,5±20,5) day of life, cystourethrography in 93% of children, renal dynamic scintygraphy in 52%, renal static scintygraphy in 16% and urography in 39% of children. Congenital urinary tract abnormalities were detected in 63% of children. Transient dilatation of renal pelvis was observed in 25% of children. We didn't find any abnormalities in 12% patients. The most common changes in urinary tract were: ureteropelvic junction obstruction (22%), vesicoureteral reflux (15%), ureterovesical junction obstruction (7%), posterior urethral valve (7%) and polycystic renal dysplasia (7%). 33% children were qualified for invasive treatment. 1. Prenatal and postnatal ultrasonography of urinary tract allows detecting congenital abnormalities of urinary tract early age of life. 2. High percentage of abnormalities in urinary tract detected in prenatal ultrasonography orders cooperation between neonatologist, urologist and nephrologist. (author)

Environmental Enrichment during Gestation Improves Behavior Consequences and Synaptic Plasticity in Hippocampus of Prenatal-Stressed Offspring Rats

International Nuclear Information System (INIS)

Li, Mingbo; Wang, Miao; Ding, Siqing; Li, Changqi; Luo, Xuegang

2012-01-01

Prenatal stress can result in various behavior deficits in offspring. Here we tested the effects of environmental enrichment during gestation used as a preventive strategy on the behavior deficits of prenatal-stressed offspring rats as well as the underlying structure basis. We compared the effect size of environmental enrichment during gestation on prenatal-stressed offspring to that of environmental enrichment after weaning. Our results showed that environmental enrichment during gestation partially prevented anxiety and the damage in learning and memory in prenatal-stressed offspring as evaluated by elevated plus-maze test and Morris water maze test. At the same time, environmental enrichment during gestation inhibited the decrease in spine density of CA1 and dentate gyrus neurons and preserved the expression of synaptophysin and glucocorticoid receptors (GRs) in the hippocampus of prenatal-stressed offspring. There was no significant difference in offspring behavior between 7-day environmental enrichment during gestation and 14-day offspring environmental enrichment after weaning. These data suggest that environmental enrichment during gestation effectively prevented the behavior deficits and the abnormal synapse structures in prenatal-stressed offspring, and that it can be used as an efficient preventive strategy against prenatal stresses

More Than Just Accuracy: A Novel Method to Incorporate Multiple Test Attributes in Evaluating Diagnostic Tests Including Point of Care Tests.

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Thompson, Matthew; Weigl, Bernhard; Fitzpatrick, Annette; Ide, Nicole

2016-01-01

Current frameworks for evaluating diagnostic tests are constrained by a focus on diagnostic accuracy, and assume that all aspects of the testing process and test attributes are discrete and equally important. Determining the balance between the benefits and harms associated with new or existing tests has been overlooked. Yet, this is critically important information for stakeholders involved in developing, testing, and implementing tests. This is particularly important for point of care tests (POCTs) where tradeoffs exist between numerous aspects of the testing process and test attributes. We developed a new model that multiple stakeholders (e.g., clinicians, patients, researchers, test developers, industry, regulators, and health care funders) can use to visualize the multiple attributes of tests, the interactions that occur between these attributes, and their impacts on health outcomes. We use multiple examples to illustrate interactions between test attributes (test availability, test experience, and test results) and outcomes, including several POCTs. The model could be used to prioritize research and development efforts, and inform regulatory submissions for new diagnostics. It could potentially provide a way to incorporate the relative weights that various subgroups or clinical settings might place on different test attributes. Our model provides a novel way that multiple stakeholders can use to visualize test attributes, their interactions, and impacts on individual and population outcomes. We anticipate that this will facilitate more informed decision making around diagnostic tests.

Molecular Diagnostic Tests for Microsporidia

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Kaya Ghosh

2009-01-01

Full Text Available The Microsporidia are a ubiquitous group of eukaryotic obligate intracellular parasites which were recognized over 100 years ago with the description of Nosema bombycis, a parasite of silkworms. It is now appreciated that these organisms are related to the Fungi. Microsporidia infect all major animal groups most often as gastrointestinal pathogens; however they have been reported from every tissue and organ, and their spores are common in environmental sources such as ditch water. Several different genera of these organisms infect humans, but the majority of infections are due to either Enterocytozoon bieneusi or Encephalitozoon species. These pathogens can be difficult to diagnose, but significant progress has been made in the last decade in the development of molecular diagnostic reagents for these organisms. This report reviews the molecular diagnostic tests that have been described for the identification of the microsporidia that infect humans.

Prenatal control of nondeletional α-thalassemia: first experience in mainland China.

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Li, Jian; Li, Ru; Zhou, Jian-Ying; Xie, Xing-Mei; Liao, Can; Li, Dong-Zhi

2013-09-01

To demonstrate the performance of nondeletional α-thalassemia prevention at a mainland Chinese hospital. A prenatal control program for nondeletional hemoglobin H (Hb H) disease was conducted from January 2010 to June 2012. All couples were screened for α-thalassemia trait, and for couples in whom one partner was tested positive for α(0) -thalassemia, the other was subjected to screening for Hb Constant Spring and Hb Quong Sze mutations. Prenatal diagnoses were offered in pregnancies of couples at-risk for nondeletional Hb H disease. Of the 30,152 couples screened, 18 (0.06%) were diagnosed as at risk for nondeletional Hb H disease. There were other 13 at-risk couples who were referred to prenatal diagnosis because they had previously an affected child. Of the 31 cases with prenatal invasive tests, 11 (35.5%) had diagnosis by chorionic villous sampling, and 20 (64.5%) had amniocentesis. Totally, 12 fetuses were diagnosed with nondeletional Hb H disease, and all of the affected pregnancies were terminated. Implementation of a prevention and control program accompanying with a referral system for prenatal diagnosis is technically feasible in southern China, and a number of nondeletional Hb H disease have been prevented during the past 3 years of operation. © 2013 John Wiley & Sons, Ltd.

Improving prenatal care in pregnant women in Iranshahr, Iran: Applying Health Belief Model.

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Izadirad, Hossien; Niknami, Shamsoddin; Zareban, Iraj; Hidarnia, Alireza

2017-11-07

To determine the effect of an education-based intervention on receiving adequate prenatal care. This randomized, controlled trial was conducted on 90 primiparous pregnant women, referred in Iranshahr, Iran for prenatal care (intervention = 45, control group = 45). The data were collected from February to June 2016 using a questionnaire developed based on the Health Belief Model (HBM). The intervention group received three intervention sessions during the second trimester of pregnancy, and 3 months after intervention, both groups completed a questionnaire. Data were analyzed using independent sample t-tests, chi-squared tests, paired t-test, Pearson and multivariate regression. Unlike the control group, in the intervention group's mean scores for knowledge, variables from the HBM model and frequency of prenatal care significantly differed from pre- to post-intervention (pre-intervention mean = 12.62 ± 2.63, post-intervention mean = 17.71 ± 1.56, (p ˂ 0.05). Self-efficacy was positively correlated with knowledge (r = 0.304, p = 0.02) and adequate prenatal care (r = 0.583, p ˂ 0.001). The constructs of the HBM explained 75% of the variance in frequency of prenatal care in multivariable models. Developing an educational program based on the HBM was effective in the adoptation of prenatal care. Additionally, considering social, economic, and educational follow-up while implementing these programs is recommended.

Childhood Maltreatment History, Posttraumatic Relational Sequelae, and Prenatal Care Utilization

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Bell, Sue Anne; Seng, Julia

2015-01-01

Objective To test the hypothesis that childhood maltreatment history would be associated with inadequate prenatal care utilization. Design A post-hoc analysis of a prospective cohort study of the effects of post traumatic stress disorder (PTSD) on pregnancy outcomes. Setting Recruitment took place via prenatal clinics from three academic health systems in southeast Michigan. Participants This analysis included 467 diverse, nulliparous, English-speaking adult women expecting their first infants. Methods Data were gathered from structured telephone interviews at two time points in pregnancy and from prenatal medical records. Results Contrary to our hypothesis, history of childhood maltreatment was associated with better likelihood of using adequate prenatal care. Risk for inadequate prenatal care occurred in association with the posttraumatic stress and interpersonal sensitivity that can result from maltreatment, with low alliance with the maternity care provider, and with public insurance coverage. Prior mental health treatment was associated with using adequate prenatal care. Conclusion When childhood maltreatment survivors were resilient or have used mental health treatment, they were more likely to utilize adequate prenatal care. The maternity care relationship or service delivery model (e.g., no continuity of care) as well as structural factors may adversely affect utilization among PTSD-affected survivors. Since inadequate care was associated with adverse outcomes, further studies of these modifiable factors are warranted. PMID:23772546

Network meta-analysis of diagnostic test accuracy studies identifies and ranks the optimal diagnostic tests and thresholds for health care policy and decision-making.

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Owen, Rhiannon K; Cooper, Nicola J; Quinn, Terence J; Lees, Rosalind; Sutton, Alex J

2018-07-01

Network meta-analyses (NMA) have extensively been used to compare the effectiveness of multiple interventions for health care policy and decision-making. However, methods for evaluating the performance of multiple diagnostic tests are less established. In a decision-making context, we are often interested in comparing and ranking the performance of multiple diagnostic tests, at varying levels of test thresholds, in one simultaneous analysis. Motivated by an example of cognitive impairment diagnosis following stroke, we synthesized data from 13 studies assessing the efficiency of two diagnostic tests: Mini-Mental State Examination (MMSE) and Montreal Cognitive Assessment (MoCA), at two test thresholds: MMSE accounting for the correlations between multiple test accuracy measures from the same study. We developed and successfully fitted a model comparing multiple tests/threshold combinations while imposing threshold constraints. Using this model, we found that MoCA at threshold decision making. Copyright © 2018 The Authors. Published by Elsevier Inc. All rights reserved.

Efficient strategies to find diagnostic test accuracy studies in kidney journals.

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Rogerson, Thomas E; Ladhani, Maleeka; Mitchell, Ruth; Craig, Jonathan C; Webster, Angela C

2015-08-01

Nephrologists looking for quick answers to diagnostic clinical questions in MEDLINE can use a range of published search strategies or Clinical Query limits to improve the precision of their searches. We aimed to evaluate existing search strategies for finding diagnostic test accuracy studies in nephrology journals. We assessed the accuracy of 14 search strategies for retrieving diagnostic test accuracy studies from three nephrology journals indexed in MEDLINE. Two investigators hand searched the same journals to create a reference set of diagnostic test accuracy studies to compare search strategy results against. We identified 103 diagnostic test accuracy studies, accounting for 2.1% of all studies published. The most specific search strategy was the Narrow Clinical Queries limit (sensitivity: 0.20, 95% CI 0.13-0.29; specificity: 0.99, 95% CI 0.99-0.99). Using the Narrow Clinical Queries limit, a searcher would need to screen three (95% CI 2-6) articles to find one diagnostic study. The most sensitive search strategy was van der Weijden 1999 Extended (sensitivity: 0.95; 95% CI 0.89-0.98; specificity 0.55, 95% CI 0.53-0.56) but required a searcher to screen 24 (95% CI 23-26) articles to find one diagnostic study. Bachmann 2002 was the best balanced search strategy, which was sensitive (0.88, 95% CI 0.81-0.94), but also specific (0.74, 95% CI 0.73-0.75), with a number needed to screen of 15 (95% CI 14-17). Diagnostic studies are infrequently published in nephrology journals. The addition of a strategy for diagnostic studies to a subject search strategy in MEDLINE may reduce the records needed to screen while preserving adequate search sensitivity for routine clinical use. © 2015 Asian Pacific Society of Nephrology.

Group Prenatal Care Attendance: Determinants and Relationship with Care Satisfaction.

Science.gov (United States)

Cunningham, Shayna D; Grilo, Stephanie; Lewis, Jessica B; Novick, Gina; Rising, Sharon Schindler; Tobin, Jonathan N; Ickovics, Jeannette R

2017-04-01

Objectives Group prenatal care results in improved birth outcomes in randomized controlled trials, and better attendance at group prenatal care visits is associated with stronger clinical effects. This paper's objectives are to identify determinants of group prenatal care attendance, and to examine the association between proportion of prenatal care received in a group context and satisfaction with care. Methods We conducted a secondary data analysis of pregnant adolescents (n = 547) receiving group prenatal care in New York City (2008-2012). Multivariable linear regression models were used to test associations between patient characteristics and percent of group care sessions attended, and between the proportion of prenatal care visits that occurred in a group context and care satisfaction. Results Sixty-seven groups were established. Group sizes ranged from 3 to 15 women (mean = 8.16, SD = 3.08); 87 % of groups enrolled at least five women. Women enrolled in group prenatal care supplemented group sessions with individual care visits. However, the percent of women who attended each group session was relatively consistent, ranging from 56 to 63 %. Being born outside of the United States was significantly associated with higher group session attendance rates [B(SE) = 11.46 (3.46), p = 0.001], and women who received a higher proportion of care in groups reported higher levels of care satisfaction [B(SE) = 0.11 (0.02), p prenatal care as possible in a group setting, as well as value-based reimbursement models and other incentives to encourage more widespread adoption of group prenatal care.

Norrie disease: first mutation report and prenatal diagnosis in an Indian family.

Science.gov (United States)

Ghosh, Manju; Sharma, Shipra; Shastri, Shivaram; Arora, Sadhna; Shukla, Rashmi; Gupta, Neerja; Deka, Deepika; Kabra, Madhulika

2012-11-01

Norrie Disease (ND) is a rare X-linked recessive disorder characterised by congenital blindness due to severe retinal dysgenesis. Hearing loss and intellectual disability is present in 30-50 % cases. ND is caused by mutations in the NDP gene, located at Xp11.3. The authors describe mutation analysis of a proband with ND and subsequently prenatal diagnosis. Sequence analysis of the NDP gene revealed a hemizygous missense mutation arginine to serine in codon 41 (p.Arg41Ser) in the affected child. Mother was carrier for the mutation. In a subsequent di-chorionic di-amniotic pregnancy, the authors performed prenatal diagnosis by mutation analysis on chorionic villi sample at 11 wk of gestation. The fetuses were unaffected. This is a first mutation report and prenatal diagnosis of a familial case of Norrie disease from India. The importance of genetic testing of Norrie disease for confirmation, carrier testing, prenatal diagnosis and genetic counseling is emphasized.

Characterization of the Goubau line for testing beam diagnostic instruments

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Kim, S. Y.; Stulle, F.; Sung, C. K.; Yoo, K. H.; Seok, J.; Moon, K. J.; Choi, C. U.; Chung, Y.; Kim, G.; Woo, H. J.; Kwon, J.; Lee, I. G.; Choi, E. M.; Chung, M.

2017-12-01

One of the main characteristics of the Goubau line is that it supports a low-loss, non-radiated surface wave guided by a dielectric-coated metal wire. The dominant mode of the surface wave along the Goubau line is a TM01 mode, which resembles the pattern of the electromagnetic fields induced in the metallic beam pipe when the charged particle beam passes through it. Therefore, the Goubau line can be used for the preliminary bench test and performance optimization of the beam diagnostic instruments without requiring charged particle beams from the accelerators. In this paper, we discuss the basic properties of the Goubau line for testing beam diagnostic instruments and present the initial test results for button-type beam position monitors (BPMs). The experimental results are consistent with the theoretical estimations, which indicates that Goubau line allows effective testing of beam diagnostic equipment.

Better Tests, Better Care: Improved Diagnostics for Infectious Diseases

Science.gov (United States)

Caliendo, Angela M.; Gilbert, David N.; Ginocchio, Christine C.; Hanson, Kimberly E.; May, Larissa; Quinn, Thomas C.; Tenover, Fred C.; Alland, David; Blaschke, Anne J.; Bonomo, Robert A.; Carroll, Karen C.; Ferraro, Mary Jane; Hirschhorn, Lisa R.; Joseph, W. Patrick; Karchmer, Tobi; MacIntyre, Ann T.; Reller, L. Barth; Jackson, Audrey F.

2013-01-01

In this IDSA policy paper, we review the current diagnostic landscape, including unmet needs and emerging technologies, and assess the challenges to the development and clinical integration of improved tests. To fulfill the promise of emerging diagnostics, IDSA presents recommendations that address a host of identified barriers. Achieving these goals will require the engagement and coordination of a number of stakeholders, including Congress, funding and regulatory bodies, public health agencies, the diagnostics industry, healthcare systems, professional societies, and individual clinicians. PMID:24200831

The effects of prenatal stocking densities on the fear responses and sociality of goat (Capra hircus kids.

Directory of Open Access Journals (Sweden)

Rachel M Chojnacki

Full Text Available Prenatal stress (stress experienced by a pregnant mother and its effects on offspring have been comprehensively studied but relatively little research has been done on how prenatal social stress affects farm animals such as goats. Here, we use the operational description of 'stress' as "physical or perceived threats to homeostasis." The aim of this study was to investigate the prenatal effects of different herd densities on the fear responses and sociality of goat kids. Pregnant Norwegian dairy goats were exposed to high, medium or low prenatal animal density treatments throughout gestation (1.0, 2.0 or 3.0 m2 per animal, respectively. One kid per litter was subjected to two behavioral tests at 5 weeks of age. The 'social test' was applied to assess the fear responses, sociality and social recognition skills when presented with a familiar and unfamiliar kid and the 'separation test' assessed the behavioral coping skills when isolated. The results indicate goat kids from the highest prenatal density of 1.0 m2 were more fearful than the kids from the lower prenatal densities (i.e. made more escape attempts (separation test: P < 0.001 and vocalizations (social test: P < 0.001; separation test: P < 0.001. This effect was more pronounced in females than males in the high density (vocalizations; social test: P < 0.001; separation test: P  =  0.001 and females were generally more social than males. However, goat kids did not differentiate between a familiar and an unfamiliar kid at 5 weeks of age and sociality was not affected by the prenatal density treatment. We conclude that high animal densities during pregnancy in goats produce offspring that have a higher level of fear, particularly in females. Behavioral changes in offspring that occur as an effect of prenatal stress are of high importance as many of the females are recruited to the breeding stock of dairy goats.

Maternal plasma levels of cell-free β-HCG mRNA as a prenatal diagnostic indicator of placenta accrete.

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Zhou, J; Li, J; Yan, P; Ye, Y H; Peng, W; Wang, S; Wang, X Tong

2014-09-01

Several biomarkers, including maternal serum creatinine kinase and α-fetoprotein, have been described as potential tools for the diagnosis of placental abnormalities. This study aimed to determine whether maternal plasma mRNA levels of the β subunit of human chorionic gonadotropin (β-HCG) could predict placenta accreta prenatally. Sixty-eight singleton pregnant women with prior cesarean deliveries (CDs) were classified into three groups: normal placentation (35 women, control group); placenta previa alone (21 women, placenta previa group); and both placenta previa and placenta accreta (12 women, placenta previa/accreta group). Maternal plasma concentrations of cell-free β-HCG mRNA were measured by real-time reverse-transcription polymerase chain reaction and were expressed as multiples of the median (MoM). Cell-free β-HCG mRNA concentrations (MoM, range) were significantly higher in women with placenta accreta (3.65, 2.78-7.19) than in women with placenta previa (0.94, 0.00-2.97) or normal placentation (1.00, 0.00-2.69) (Steel-Dwass test, P accreta group, the concentration of cell-free β-HCG mRNA was significantly higher among women who underwent CDs with hysterectomy (4.41, 3.49-7.19) than among women whose CDs did not result in hysterectomy (3.20, 2.78-3.70) (Mann-Whitney U test, P = 0.012). An increased level of cell-free β-HCG mRNA in the maternal plasma of women with placenta accreta may arise from direct uteroplacental transfer of cell-free placental mRNA molecules. The concentration of cell-free β-HCG mRNA in maternal plasma may be applicable to the prenatal diagnosis of placenta accreta, especially to identify women with placenta accreta likely to require hysterectomy. Copyright © 2014 Elsevier Ltd. All rights reserved.

[Predictive factors of the outcomes of prenatal hydronephrosis.

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Bragagnini, Paolo; Estors, Blanca; Delgado, Reyes; Rihuete, Miguel Ángel; Gracia, Jesús

2016-12-01

To determine prenatal and postnatal independent predictors of poor outcome, spontaneous resolution, or the need for surgery in patients with prenatal hydronephrosis. We performed a retrospective study of patients with prenatal hydronephrosis. The renal pelvis APD was measured in the third prenatal trimester ultrasound, as well as in the first and second postnatal ultrasound. Other variables were taken into account, both prenatal and postnatal. For statistical analysis we used Student t-test, chi-square test, survival analysis, logrank test, and ROC curves. We included 218 patients with 293 renal units (RU). Of these, 147/293 (50.2%) RU were operated. 76/293 (25.9%) RU had spontaneous resolution and other 76/293 (25.9%) RU had poor outcome. As risk factors for surgery we found low birth weight (OR 3.84; 95% CI 1.24-11.84), prematurity (OR 4.17; 95% CI 1.35-12.88), duplication (OR 4.99; 95% CI 2.21-11.23) and the presence of nephrourological underlying pathology (OR 53.54; 95% CI 26.23-109.27). For the non-spontaneous resolution, we found as risk factors the alterations of amniotic fluid volume (RR 1.46; 95% CI 1.33-1.60) as well as the underlying nephrourological pathology and duplication. In the poor outcome, we found as risk factors the alterations of amniotic fluid volume (OR 4.54; 95% CI 1.31-15.62), the presence of nephrourological pathology (OR 4.81 95% CI 2.60-8.89) and RU that was operated (OR 4.23, 95% CI 2.35-7.60). The APD of the renal pelvis in all three ultrasounds were reliable for surgery prediction (area under the curve 0.65; 0.82; 0.71) or spontaneous resolution (area under the curve 0.80; 0.91; 0.80), only the first postnatal ultrasound has predictive value in the poor outcome (area under the curve 0.73). The higher sensitivity and specificity of the APD as predictor value was on the first postnatal ultrasound, 14.60 mm for surgery; 11.35 mm for spontaneous resolution and 15.50 mm for poor outcome. The higher APD in the renal pelvis in any of the

Mixed Portmanteau Test for Diagnostic Checking of Time Series Models

Directory of Open Access Journals (Sweden)

Sohail Chand

2014-01-01

Full Text Available Model criticism is an important stage of model building and thus goodness of fit tests provides a set of tools for diagnostic checking of the fitted model. Several tests are suggested in literature for diagnostic checking. These tests use autocorrelation or partial autocorrelation in the residuals to criticize the adequacy of fitted model. The main idea underlying these portmanteau tests is to identify if there is any dependence structure which is yet unexplained by the fitted model. In this paper, we suggest mixed portmanteau tests based on autocorrelation and partial autocorrelation functions of the residuals. We derived the asymptotic distribution of the mixture test and studied its size and power using Monte Carlo simulations.

Ethical, legal and social implications of prenatal and preimplantation genetic testing for cancer susceptibility.

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Wang, C-W; Hui, E C

2009-01-01

With the progress in cancer genetics and assisted reproductive technologies, it is now possible for cancer gene mutation carriers not only to reduce cancer mortality through the targeting of surveillance and preventive therapies, but also to avoid the birth of at-risk babies through the choice of different means of reproduction. Thus, the incidence of hereditary cancer syndromes may be decreased in the future. The integration of cancer genetic testing and assisted reproductive technologies raises certain ethical, legal and social issues beyond either genetic testing or assisted reproductive technology itself. In this paper, the reproductive decisions/choices of at-risk young couples and the ethical, legal and social concerns of prenatal genetic testing and preimplantation genetic diagnosis for susceptibility to hereditary cancer syndromes are discussed. Specifically, three ethical principles related to the integration of cancer genetic testing and assisted reproductive technologies, i.e. informed choice, beneficence to children and social justice, and their implications for the responsible translation of these medical techniques into common practice of preventive medicine are highlighted.

Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management.

Science.gov (United States)

Chandler, Natalie; Best, Sunayna; Hayward, Jane; Faravelli, Francesca; Mansour, Sahar; Kivuva, Emma; Tapon, Dagmar; Male, Alison; DeVile, Catherine; Chitty, Lyn S

2018-03-29

PurposeUnexpected fetal abnormalities occur in 2-5% of pregnancies. While traditional cytogenetic and microarray approaches achieve diagnosis in around 40% of cases, lack of diagnosis in others impedes parental counseling, informed decision making, and pregnancy management. Postnatally exome sequencing yields high diagnostic rates, but relies on careful phenotyping to interpret genotype results. Here we used a multidisciplinary approach to explore the utility of rapid fetal exome sequencing for prenatal diagnosis using skeletal dysplasias as an exemplar.MethodsParents in pregnancies undergoing invasive testing because of sonographic fetal abnormalities, where multidisciplinary review considered skeletal dysplasia a likely etiology, were consented for exome trio sequencing (both parents and fetus). Variant interpretation focused on a virtual panel of 240 genes known to cause skeletal dysplasias.ResultsDefinitive molecular diagnosis was made in 13/16 (81%) cases. In some cases, fetal ultrasound findings alone were of sufficient severity for parents to opt for termination. In others, molecular diagnosis informed accurate prediction of outcome, improved parental counseling, and enabled parents to terminate or continue the pregnancy with certainty.ConclusionTrio sequencing with expert multidisciplinary review for case selection and data interpretation yields timely, high diagnostic rates in fetuses presenting with unexpected skeletal abnormalities. This improves parental counseling and pregnancy management.Genetics in Medicine advance online publication, 29 March 2018; doi:10.1038/gim.2018.30.

Pattern of prenatal care utilization in Tehran: A population based longitudinal study.

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Kolahi, Ali-Asghar; Abbasi-Kangevari, Mohsen; Abdollahi, Morteza; Ehdaeivand, Farnaz; Arshi, Shahnam

2017-09-28

To assess the pattern of prenatal care utilization in Tehran in 2015. A total of 2005 pregnant women who lived in the catchment area of the study participated. Participants were followed from the sixth week of pregnancy until birth. Data were collected either through interviews or from written medical records. More than 95% of mothers completed all eight prenatal care visits. Some 99% of mothers completed at least four visits. The prenatal care utilization was equal among all different socio-economic regions in Tehran. Gynecologists were the main healthcare providers in prenatal care visits. In addition, 75% of mothers went to gynecologists at their office or in hospitals for ordering first-trimester screening tests. Prenatal care utilization complied with both national guidelines and recommendations of World Health Organization regarding the number of conducted visits. Equal accessibility and availability of prenatal care service despite the socio-economical differences of families is suggestive of equity and social justice in terms of providing health services in both public and private sectors. Among healthcare providers, gynecologists were the main healthcare provider for prenatal care visits. Copyright © 2017 Australian College of Midwives. Published by Elsevier Ltd. All rights reserved.

Improved Outcomes for Hispanic Women with Gestational Diabetes Using the Centering Pregnancy© Group Prenatal Care Model.

Science.gov (United States)

Schellinger, Megan M; Abernathy, Mary Pell; Amerman, Barbara; May, Carissa; Foxlow, Leslie A; Carter, Amy L; Barbour, Kelli; Luebbehusen, Erin; Ayo, Katherine; Bastawros, Dina; Rose, Rebecca S; Haas, David M

2017-02-01

Objective To determine the impact of Centering Pregnancy © -based group prenatal care for Hispanic gravid diabetics on pregnancy outcomes and postpartum follow-up care compared to those receiving traditional prenatal care. Methods A cohort study was performed including 460 women diagnosed with gestational diabetes mellitus (GDM) who received traditional or Centering Pregnancy © prenatal care. The primary outcome measured was completion of postpartum glucose tolerance testing. Secondary outcomes included postpartum visit attendance, birth outcomes, breastfeeding, and initiation of a family planning method. Results 203 women received Centering Pregnancy © group prenatal care and 257 received traditional individual prenatal care. Women receiving Centering Pregnancy © prenatal care were more likely to complete postpartum glucose tolerance testing than those receiving traditional prenatal care, (83.6 vs. 60.7 %, respectively; p prenatal care (30.2 vs. 42.1 %; p = 0.009), and were less likely to undergo inductions of labor (34.5 vs. 46.2 %; p = 0.014). When only Hispanic women were compared, women in the Centering group continued to have higher rates of breastfeeding and completion of postpartum diabetes screening. Conclusion for Practice Hispanic women with GDM who participate in Centering Pregnancy © group prenatal care may have improved outcomes.

Development of diagnostic test instruments to reveal level student conception in kinematic and dynamics

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Handhika, J.; Cari, C.; Suparmi, A.; Sunarno, W.; Purwandari, P.

2018-03-01

The purpose of this research was to develop a diagnostic test instrument to reveal students' conceptions in kinematics and dynamics. The diagnostic test was developed based on the content indicator the concept of (1) displacement and distance, (2) instantaneous and average velocity, (3) zero and constant acceleration, (4) gravitational acceleration (5) Newton's first Law, (6) and Newton's third Law. The diagnostic test development model includes: Diagnostic test requirement analysis, formulating test-making objectives, developing tests, checking the validity of the content and the performance of reliability, and application of tests. The Content Validation Index (CVI) results in the category are highly relevant, with a value of 0.85. Three questions get negative Content Validation Ratio CVR) (-0.6), after revised distractors and clarify visual presentation; the CVR become 1 (highly relevant). This test was applied, obtained 16 valid test items, with Cronbach Alpha value of 0.80. It can conclude that diagnostic test can be used to reveal the level of students conception in kinematics and dynamics.

Rapid diagnostic tests for typhoid and paratyphoid (enteric) fever

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Wijedoru, Lalith; Mallett, Sue; Parry, Christopher M

2017-01-01

Background Differentiating both typhoid (Salmonella Typhi) and paratyphoid (Salmonella Paratyphi A) infection from other causes of fever in endemic areas is a diagnostic challenge. Although commercial point-of-care rapid diagnostic tests (RDTs) for enteric fever are available as alternatives to the current reference standard test of blood or bone marrow culture, or to the widely used Widal Test, their diagnostic accuracy is unclear. If accurate, they could potentially replace blood culture as the World Health Organization (WHO)-recommended main diagnostic test for enteric fever. Objectives To assess the diagnostic accuracy of commercially available rapid diagnostic tests (RDTs) and prototypes for detecting Salmonella Typhi or Paratyphi A infection in symptomatic persons living in endemic areas. Search methods We searched the Cochrane Infectious Diseases Group Specialized Register, MEDLINE, Embase, Science Citation Index, IndMED, African Index Medicus, LILACS, ClinicalTrials.gov, and the World Health Organization (WHO) International Clinical Trials Registry Platform (ICTRP) up to 4 March 2016. We manually searched WHO reports, and papers from international conferences on Salmonella infections. We also contacted test manufacturers to identify studies. Selection criteria We included diagnostic accuracy studies of enteric fever RDTs in patients with fever or with symptoms suggestive of enteric fever living in endemic areas. We classified the reference standard used as either Grade 1 (result from a blood culture and a bone marrow culture) or Grade 2 (result from blood culture and blood polymerase chain reaction, or from blood culture alone). Data collection and analysis Two review authors independently extracted the test result data. We used a modified QUADAS-2 extraction form to assess methodological quality. We performed a meta-analysis when there were sufficient studies for the test and heterogeneity was reasonable. Main results Thirty-seven studies met the inclusion

Rapid-prenatal diagnosis through fluorescence in situ hybridization for preventing aneuploidy related birth defects.

Science.gov (United States)

Fauzdar, Ashish; Chowdhry, Mohit; Makroo, R N; Mishra, Manoj; Srivastava, Priyanka; Tyagi, Richa; Bhadauria, Preeti; Kaul, Anita

2013-01-01

Women with high-risk pregnancies are offered prenatal diagnosis through amniocentesis for cytogenetic analysis of fetal cells. The aim of this study was to evaluate the effectiveness of the rapid fluorescence in situ hybridization (FISH) technique for detecting numerical aberrations of chromosomes 13, 21, 18, X and Y in high-risk pregnancies in an Indian scenario. A total of 163 samples were received for a FISH and/or a full karyotype for prenatal diagnosis from high-risk pregnancies. In 116 samples both conventional culture techniques for getting karyotype through G-banding techniques were applied in conjunction to FISH test using the AneuVysion kit (Abbott Molecular, Inc.), following standard recommended protocol to compare the both the techniques in our setup. Out of 116 patients, we got 96 normal for the five major chromosome abnormality and seven patients were found to be abnormal (04 trisomy 21, 02 monosomy X, and 01 trisomy 13) and all the FISH results correlated with conventional cytogenetics. To summarize the results of total 163 patients for the major chromosomal abnormalities analyzed by both/or cytogenetics and FISH there were 140 (86%) normal, 9 (6%) cases were abnormal and another 4 (2.5%) cases were suspicious mosaic and 10 (6%) cases of culture failure. The diagnostic detection rate with FISH in 116 patients was 97.5%. There were no false-positive and false-negative autosomal or sex chromosomal results, within our established criteria for reporting FISH signals. Rapid FISH is a reliable and prompt method for detecting numerical chromosomal aberrations and has now been implemented as a routine diagnostic procedure for detection of fetal aneuploidy in India.

MicroRNA Expression Profile in the Prenatal Amniotic Fluid Samples of Pregnant Women with Down Syndrome.

Science.gov (United States)

Karaca, Emin; Aykut, Ayça; Ertürk, Biray; Durmaz, Burak; Güler, Ahmet; Büke, Barış; Yeniel, Ahmet Özgür; Ergenoğlu, Ahmet Mete; Özkınay, Ferda; Özeren, Mehmet; Kazandı, Mert; Akercan, Fuat; Sağol, Sermet; Gündüz, Cumhur; Çoğulu, Özgür

2018-03-15

Down syndrome, which is the most common human chromosomal anomaly that can affect people of any race and age, can be diagnosed prenatally in most cases. Prenatal diagnosis via culture method is time-consuming; thus, genetic analysis has thus been introduced and is continually being developed for rapid prenatal diagnosis. For this reason, the effective use of microRNA profiling for the rapid analysis of prenatal amniotic fluid samples for the diagnosis of Down syndrome was investigated. To evaluate the expression levels of 14 microRNAs encoded by chromosome 21 in amniotic fluid samples and their utility for prenatal diagnosis of Down syndrome. Case-control study. We performed invasive prenatal testing for 56 pregnant women; 23 carried fetuses with Down syndrome, and 33 carried fetuses with a normal karyotype. Advanced maternal age and increased risk for Down syndrome in the screening tests were indications for invasive prenatal testing. The age of gestation in the study and control groups ranged between 17 and 18 weeks. The expression levels of microRNA were measured by real-time polymerase chain reaction. The expression levels of microRNA-125b-2, microRNA-155 , and microRNA-3156 were significantly higher in the study group than in the control group. The presence of significantly dysregulated microRNAs may be associated with either the phenotype or the result of abnormal development. Further large-scale comparative studies conducted in a variety of conditions may bring novel insights in the field of abnormal prenatal conditions.

Diagnostic value of serologic tests in celiac screening

Directory of Open Access Journals (Sweden)

Hosein Saneian

2012-01-01

Conclusions: According to our study results, there is no correlation between gastrointestinal symptoms such as vomiting diarrhea, anorexia, bulimia, and failure to thrive (FFT with celiac. TTG was the best screening test method to diagnose celiac disease and other tests such as AGA and EMA do not have high diagnostic value.

Compare diagnostic tests using transformation-invariant smoothed ROC curves⋆

Science.gov (United States)

Tang, Liansheng; Du, Pang; Wu, Chengqing

2012-01-01

Receiver operating characteristic (ROC) curve, plotting true positive rates against false positive rates as threshold varies, is an important tool for evaluating biomarkers in diagnostic medicine studies. By definition, ROC curve is monotone increasing from 0 to 1 and is invariant to any monotone transformation of test results. And it is often a curve with certain level of smoothness when test results from the diseased and non-diseased subjects follow continuous distributions. Most existing ROC curve estimation methods do not guarantee all of these properties. One of the exceptions is Du and Tang (2009) which applies certain monotone spline regression procedure to empirical ROC estimates. However, their method does not consider the inherent correlations between empirical ROC estimates. This makes the derivation of the asymptotic properties very difficult. In this paper we propose a penalized weighted least square estimation method, which incorporates the covariance between empirical ROC estimates as a weight matrix. The resulting estimator satisfies all the aforementioned properties, and we show that it is also consistent. Then a resampling approach is used to extend our method for comparisons of two or more diagnostic tests. Our simulations show a significantly improved performance over the existing method, especially for steep ROC curves. We then apply the proposed method to a cancer diagnostic study that compares several newly developed diagnostic biomarkers to a traditional one. PMID:22639484

The diagnostic odds ratio: a single indicator of test performance

NARCIS (Netherlands)

Glas, Afina S.; Lijmer, Jeroen G.; Prins, Martin H.; Bonsel, Gouke J.; Bossuyt, Patrick M. M.

2003-01-01

Diagnostic testing can be used to discriminate subjects with a target disorder from subjects without it. Several indicators of diagnostic performance have been proposed, such as sensitivity and specificity. Using paired indicators can be a disadvantage in comparing the performance of competing

Diagnostic accuracy of temporomandibular disorder pain tests: a multicenter study

NARCIS (Netherlands)

Visscher, C.M.; Naeije, M.; de Laat, A.; Michelotti, A.; Nilner, M.; Craane, B.; Ekberg, E.; Farella, M.; Lobbezoo, F.

2009-01-01

AIMS: To estimate the diagnostic accuracy of the Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD) clinical examination and of the dynamic/static tests for the recognition of TMD pain. Since the diagnosis of TMD pain is especially complicated in persistent orofacial pain

Clinical, social and ethical issues associated with non-invasive prenatal testing for aneuploidy.

Science.gov (United States)

Griffin, Blanche; Edwards, Samantha; Chitty, Lyn S; Lewis, Celine

2018-03-01

Non-invasive prenatal testing (NIPT), based on analysis of cell-free foetal DNA, is rapidly becoming a preferred method to screen for chromosomal aneuploidy with the technology now available in over 90 countries. This review provides an up-to-date discussion of the key clinical, social and ethical implications associated with this revolutionary technology. Stakeholders are positive about a test that is highly accurate, safe, can be perfomed early in pregnancy, identifies affected pregnancies that might otherwise have been missed and reduces the need for invasive testing. Nevertheless, professional societies currently recommend it as an advanced screening test due to the low false positive rate (FPR). Despite the practical and psychological benefits, a number of concerns have been raised which warrant attention. These include the potential for routinisation of testing and subsequent impact on informed decision-making, an "easy" blood test inadvertently contributing to women feeling pressured to take the test, fears NIPT will lead to less tolerance and support for those living with Down syndrome and the heightened expectation of having "perfect babies". These issues can be addressed to some extent through clinician education, patient information and establishing national and international consensus in the development of comprehensive and regularly updated guidelines. As the number of conditions we are able to test for non-invasively expands it will be increasingly important to ensure pre-test counselling can be delivered effectively supported by knowledgeable healthcare professionals.

Prenatal exposure to dental amalgam: evidence from the Seychelles Child Development Study main cohort.

Science.gov (United States)

Watson, Gene E; Lynch, Miranda; Myers, Gary J; Shamlaye, Conrad F; Thurston, Sally W; Zareba, Grazyna; Clarkson, Thomas W; Davidson, Philip W

2011-11-01

Dental amalgams contain approximately 50 percent metallic mercury and emit mercury vapor during the life of the restoration. Controversy surrounds whether fetal exposure to mercury vapor resulting from maternal dental amalgam restorations has neurodevelopmental consequences. The authors determined maternal amalgam restoration status during gestation (prenatal exposure to mercury vapor [Hg(0)]) retrospectively in 587 mother-child pairs enrolled in the Seychelles Child Development Study, a prospective longitudinal cohort study of the effects of prenatal and recent postnatal methylmercury (MeHg) exposure on neurodevelopment. They examined covariate-adjusted associations between prenatal maternal amalgam restoration status and the results of six age-appropriate neurodevelopmental tests administered at age 66 months. The authors fit the models without and with adjustment for prenatal and recent postnatal MeHg exposure metrics. The mean number of maternal amalgam restorations present during gestation was 5.1 surfaces (range, 1-22) in the 42.4 percent of mothers who had amalgam restorations. The authors found no significant adverse associations between the number of amalgam surfaces present during gestation and any of the six outcomes, with or without adjustment for prenatal and postnatal MeHg exposure. Results of analyses with the secondary metric, prenatal amalgam occlusal point scores, showed an adverse association in boys only on a letter- and word-identification subtest of a frequently used test of scholastic achievement, whereas girls scored better on several other tests with increasing exposure. This study's results provide no support for the hypothesis that prenatal Hg(0) exposure arising from maternal dental amalgam restorations results in neurobehavioral consequences in the child. These findings require confirmation from a prospective study of coexposure to MeHg and Hg(0).

Diagnostic yield by supplementing prenatal metaphase karyotyping with MLPA for microdeletion syndromes and subtelomere imbalances

DEFF Research Database (Denmark)

Kjaergaard, S; Sundberg, K; Jørgensen, F S

2010-01-01

The aim of the study was to retrospectively assess the relevance of using multiplex ligation-dependent probe amplification (MLPA) for detection of selected microdeletion syndromes (22q11, Prader-Willi/Angelman, Miller-Dieker, Smith-Magenis, 1p-, Williams), the reciprocal microduplication syndrome...... and imbalance at the subtelomere regions of chromosomes in a routine prenatal setting....

Prenatal care: associations with prenatal depressive symptoms and social support in low-income urban women.

Science.gov (United States)

Sidebottom, Abbey C; Hellerstedt, Wendy L; Harrison, Patricia A; Jones-Webb, Rhonda J

2017-10-01

We examined associations of depressive symptoms and social support with late and inadequate prenatal care in a low-income urban population. The sample was prenatal care patients at five community health centers. Measures of depressive symptoms, social support, and covariates were collected at prenatal care entry. Prenatal care entry and adequacy came from birth certificates. We examined outcomes of late prenatal care and less than adequate care in multivariable models. Among 2341 study participants, 16% had elevated depressive symptoms, 70% had moderate/poor social support, 21% had no/low partner support, 37% had late prenatal care, and 29% had less than adequate prenatal care. Women with both no/low partner support and elevated depressive symptoms were at highest risk of late care (AOR 1.85, CI 1.31, 2.60, p care (AOR 0.74, CI 0.54, 1.10, p = 0.051). Women with moderate/high depressive symptoms were less likely to experience less than adequate care compared to women with low symptoms (AOR 0.73, CI 0.56, 0.96, p = 0.022). Social support and partner support were negatively associated with indices of prenatal care use. Partner support was identified as protective for women with depressive symptoms with regard to late care. Study findings support public health initiatives focused on promoting models of care that address preconception and reproductive life planning. Practice-based implications include possible screening for social support and depression in preconception contexts.

Optimal Sequential Diagnostic Strategy Generation Considering Test Placement Cost for Multimode Systems

Directory of Open Access Journals (Sweden)

Shigang Zhang

2015-10-01

Full Text Available Sequential fault diagnosis is an approach that realizes fault isolation by executing the optimal test step by step. The strategy used, i.e., the sequential diagnostic strategy, has great influence on diagnostic accuracy and cost. Optimal sequential diagnostic strategy generation is an important step in the process of diagnosis system construction, which has been studied extensively in the literature. However, previous algorithms either are designed for single mode systems or do not consider test placement cost. They are not suitable to solve the sequential diagnostic strategy generation problem considering test placement cost for multimode systems. Therefore, this problem is studied in this paper. A formulation is presented. Two algorithms are proposed, one of which is realized by system transformation and the other is newly designed. Extensive simulations are carried out to test the effectiveness of the algorithms. A real-world system is also presented. All the results show that both of them have the ability to solve the diagnostic strategy generation problem, and they have different characteristics.

Optimal Sequential Diagnostic Strategy Generation Considering Test Placement Cost for Multimode Systems

Science.gov (United States)

Zhang, Shigang; Song, Lijun; Zhang, Wei; Hu, Zheng; Yang, Yongmin

2015-01-01

Sequential fault diagnosis is an approach that realizes fault isolation by executing the optimal test step by step. The strategy used, i.e., the sequential diagnostic strategy, has great influence on diagnostic accuracy and cost. Optimal sequential diagnostic strategy generation is an important step in the process of diagnosis system construction, which has been studied extensively in the literature. However, previous algorithms either are designed for single mode systems or do not consider test placement cost. They are not suitable to solve the sequential diagnostic strategy generation problem considering test placement cost for multimode systems. Therefore, this problem is studied in this paper. A formulation is presented. Two algorithms are proposed, one of which is realized by system transformation and the other is newly designed. Extensive simulations are carried out to test the effectiveness of the algorithms. A real-world system is also presented. All the results show that both of them have the ability to solve the diagnostic strategy generation problem, and they have different characteristics. PMID:26457709

Real-Time Remote Diagnostic Monitoring Test-bed in JET

Energy Technology Data Exchange (ETDEWEB)

Castro, R. [Asociation Euratom/CIEMAT para Fusion, Madrid (Spain); Kneupner, K.; Purahoo, K. [EURATOM/UKAEA Fusion Association, Abingdon (United Kingdom); Vega, J.; Pereira, A.; Portas, A. [Association EuratomCIEMAT para Fusion, Madrid (Spain); De Arcas, G.; Lopez, J.M. [Universidad Politecnica de Madrid (Spain); Murari, A. [Consorzio RFX, Padova (Italy); Fonseca, A. [Associacao URATOM/IST, Lisboa (Portugal); Contributors, J.E. [JET-EFDA, Abingdon (United Kingdom)

2009-07-01

Based on the remote experimentation concept oriented to long pulse shots, a test-bed system has been implemented in JET. It integrates 2 functionalities. The first one is the real-time monitoring, on remote, of a reflectometer diagnostic, to visualize different data outputs and status information. The second one is the integration of dotJET (Diagnostic Overview Tool for JET), which internally provides at JET an overview about the current diagnostic systems state, in order to monitor, on remote, JET diagnostics status. The architecture of the system is formed by: the data generator components, the data distribution system, an access control service, and the client applications. In the test-bed there are two data generators: the acquisition equipment associated with the reflectometer diagnostic that generates data and status information, and dotJET server that centralize the access to the status information of JET diagnostics. The data distribution system has been implemented using a publishing-subscribing technology that receives data from data generators and redistributes them to client applications. And finally, for monitoring, a client application based on Java Web Start technology, and a dotJET client application have been used. There are 3 interesting results from this project. The first one is the analysis of different aspects (data formats, data frame rate, data resolution, etc) related with remote real-time diagnostic monitoring oriented to long pulse experiments. The second one is the definition and implementation of a flexible enough architecture, to be applied to different types of data generated from other diagnostics, and that fits with remote access requirements; and the third one is to have achieved a secure system, taking into account internal networks and firewalls aspects in JET, and securing the access from remote users. For this last issue, PAPI technology has been used, enabling access control based on user attributes, enabling mobile users to

[Ethical aspects of disclosing information on prenatal screening for Down's syndrome].

Science.gov (United States)

Tóth, Adél; Szabó, János

2005-02-06

Giving detailed information on prenatal screening for Down's syndrome is considered as paramount since this medical procedure intends to enhance the patient's self-governance in reproductive issues. Not only the respect for autonomy, but also the increased maternal anxiety and the reproductive decisions following the positive test result demand from the genetic professional to offer the test through genetic counselling. The counsellor's awareness about the expectations of pregnant women and the clarification of her own attitude concerning the screening can contribute to the effectiveness of counselling. The content of information embraces the technical aspects of screening and its consequences, like the description of Down's syndrome, the method of screening, the way of risk assessment, the detection rate, the false positive and false negative test results, the diagnostic procedures, and the termination of pregnancy. Written information leaflets should be completed by personal communication as the combination of these two forms has proved to be the most useful. The process of consultation is influenced by the communication skill of the genetic professional and the information seeking activity of the patient, so doctors should be trained to communicate better and patients should be encouraged to get more information about the screening.

Prenatal stress modifies behavior and hypothalamic-pituitary-adrenal function in female guinea pig offspring: effects of timing of prenatal stress and stage of reproductive cycle.

Science.gov (United States)

Kapoor, Amita; Matthews, Stephen G

2008-12-01

Prenatal stress is associated with altered behavior and hypothalamic-pituitary-adrenal (HPA) axis function postnatally. Recent studies suggest that these outcomes are dependent on the timing of the prenatal stress. The majority of these studies have been carried out in male offspring. We hypothesized that a short period of prenatal stress would result in female offspring that exhibit differences in open-field behavior and HPA axis activity, but the outcome would depend on the timing of the prenatal stress and the stage of the reproductive cycle. Pregnant guinea pigs were exposed to a strobe light during the fetal brain growth spurt [gestational d 50-52 (PS50)] or during the period of rapid brain myelination [gestational d 60-62 (PS60)]. Open-field activity was assessed in juvenile and adult female offspring. HPA axis function was tested in adult offspring. All tests in adulthood were carried out during the estrous and luteal phases of the reproductive cycle to determine the effect of stage on HPA axis programming. Tissues were collected upon completion of the study for analysis by in situ hybridization. PS60 offspring exhibited decreased activity in an open field during the estrous phase of the reproductive cycle compared with control offspring. Both PS50 and PS60 offspring exhibited a lower salivary cortisol response to a stressor, only during the estrous phase. Consistent with the behavioral and endocrine data, PS60 females exhibited lower plasma estradiol levels, reduced ovary weight, and increased glucocorticoid receptor mRNA in the paraventricular nucleus. In conclusion, we have demonstrated that there are effects of prenatal stress on behavior and HPA axis functioning in female offspring but that the outcomes are dependent on the timing of the prenatal stress together with the status of the reproductive cycle.

Prenatal Testing for Adult-Onset Conditions: the Position of the National Society of Genetic Counselors.

Science.gov (United States)

Hercher, Laura; Uhlmann, Wendy R; Hoffman, Erin P; Gustafson, Shanna; Chen, Kelly M

2016-12-01

Advances in genetic testing and the availability of such testing in pregnancy allows prospective parents to test their future child for adult-onset conditions. This ability raises several complex ethical issues. Prospective parents have reproductive rights to obtain information about their fetus. This information may or may not alter pregnancy management. These rights can be in conflict with the rights of the future individual, who will be denied the right to elect or decline testing. This paper highlights the complexity of these issues, details discussions that went into the National Society of Genetic Counselors (NSGC) Public Policy Task Force's development of the Prenatal testing for Adult-Onset Conditions position statement adopted in November 2014, and cites relevant literature on this topic through December 2015. Issues addressed include parental rights and autonomy, rights of the future child, the right not to know, possible adverse effects on childhood and the need for genetic counseling. This paper will serve as a reference to genetic counselors and healthcare professionals when faced with this situation in clinical practice.

Background review for diagnostic test development for Zika virus infection.

Science.gov (United States)

Charrel, Rémi N; Leparc-Goffart, Isabelle; Pas, Suzan; de Lamballerie, Xavier; Koopmans, Marion; Reusken, Chantal

2016-08-01

To review the state of knowledge about diagnostic testing for Zika virus infection and identify areas of research needed to address the current gaps in knowledge. We made a non-systematic review of the published literature about Zika virus and supplemented this with information from commercial diagnostic test kits and personal communications with researchers in European preparedness networks. The review covered current knowledge about the geographical spread, pathogen characteristics, life cycle and infection kinetics of the virus. The available molecular and serological tests and biosafety issues are described and discussed in the context of the current outbreak strain. We identified the following areas of research to address current knowledge gaps: (i) an urgent assessment of the laboratory capacity and capability of countries to detect Zika virus; (ii) rapid and extensive field validation of the available molecular and serological tests in areas with and without Zika virus transmission, with a focus on pregnant women; (iii) monitoring the genomic diversity of circulating Zika virus strains; (iv) prospective studies into the virus infection kinetics, focusing on diagnostic sampling (specimen types, combinations and timings); and (v) developing external quality assessments for molecular and serological testing, including differential diagnosis for similar viruses and symptom clusters. The availability of reagents for diagnostic development (virus strains and antigens, quantified viral ribonucleic acid) needs to be facilitated. An international laboratory response is needed, including preparation of protocols for prospective studies to address the most pressing information needs.

Can Emergency Medicine Residents Predict Cost of Diagnostic Testing?

Directory of Open Access Journals (Sweden)

Tainter, Christopher R

2017-01-01

Full Text Available Diagnostic testing represents a significant portion of healthcare spending, and cost should be considered when ordering such tests. Needless and excessive spending may occur without an appreciation of the impact on the larger healthcare system. Knowledge regarding the cost of diagnostic testing among emergency medicine (EM residents has not previously been studied. A survey was administered to 20 EM residents from a single ACGME-accredited three-year EM residency program, asking for an estimation of patient charges for 20 commonly ordered laboratory tests and seven radiological exams. We compared responses between residency classes to evaluate whether there was a difference based on level of training. The survey completion rate was 100% (20/20 residents. We noted significant discrepancies between the median resident estimates and actual charge to patient for both laboratory and radiological exams. Nearly all responses were an underestimate of the actual cost. The group median underestimation for laboratory testing was $114, for radiographs $57, and for computed tomography exams was $1,058. There was improvement in accuracy with increasing level of training. This pilot study demonstrates that EM residents have a poor understanding of the charges burdening patients and health insurance providers. In order to make balanced decisions with regard to diagnostic testing, providers must appreciate these factors. Education regarding the cost of providing emergency care is a potential area for improvement of EM residency curricula, and warrants further attention and investigation.

[Does public health insurance improve health care? The case of prenatal care for adolescents in Mexico].

Science.gov (United States)

Saavedra-Avendaño, Biani; Darney, Blair G; Reyes-Morales, Hortensia; Serván-Mori, Edson

2016-01-01

To test the association between public health insurance and adequate prenatal care among female adolescents in Mexico. Cross-sectional study, using the National Health and Nutrition Survey 2000, 2006, and 2012.We included 3 978 (N=4 522 296) adolescent (12-19) women who reported a live birth.We used logistic regression models to test the association of insurance and adequate (timeliness, frequency and content) prenatal care. The multivariable predicted probability of timely and frequent prenatal care improved over time, from 0.60 (IC95%:0.56;0.64) in 2000 to 0.71 (IC95%:0.66;0.76) in 2012. In 2012, the probability of adequate prenatal care was 0.54 (IC95%:0.49;0.58); women with Social Security had higher probability than women with Seguro Popular and without health insurance. Having Social Security is associated with receipt of adequate prenatal care among adolescents in Mexico.

Laboratory development and testing of spacecraft diagnostics

Science.gov (United States)

Amatucci, William; Tejero, Erik; Blackwell, Dave; Walker, Dave; Gatling, George; Enloe, Lon; Gillman, Eric

2017-10-01

The Naval Research Laboratory's Space Chamber experiment is a large-scale laboratory device dedicated to the creation of large-volume plasmas with parameters scaled to realistic space plasmas. Such devices make valuable contributions to the investigation of space plasma phenomena under controlled, reproducible conditions, allowing for the validation of theoretical models being applied to space data. However, in addition to investigations such as plasma wave and instability studies, such devices can also make valuable contributions to the development and testing of space plasma diagnostics. One example is the plasma impedance probe developed at NRL. Originally developed as a laboratory diagnostic, the sensor has now been flown on a sounding rocket, is included on a CubeSat experiment, and will be included on the DoD Space Test Program's STP-H6 experiment on the International Space Station. In this talk, we will describe how the laboratory simulation of space plasmas made this development path possible. Work sponsored by the US Naval Research Laboratory Base Program.

Reproductive and genetic effects of continuous prenatal irradiation in the pig

International Nuclear Information System (INIS)

Erickson, B.H.; Martin, P.G.

1984-01-01

The stem germ cells of the prenatal pig are highly vulnerable to the cytotoxic effects of ionizing irradiation. This study was conducted to determine whether sensitivity to killing was also marked by a sensitivity to mutation and how prenatal depletion of the germ-cell population affects reproductive performance. Germ-cell populations were reduced by continuously irradiating sows at dose rates of either 0.25 or 1.0 rad/day for the first 108 days of gestation. The prenatally irradiated boars were tested for sperm-producing ability, sperm abnormalities, dominant lethality, reciprocal translocations, and fertility. Prenatally irradiated females were allowed to bear and nurture one litter, then tested for dominant lethality in a second litter; germ cell survival and follicular development were assessed in their serially sectioned ovaries. Sperm production was not significantly affected in the 0.25-rad boars, but boars irradiated with 1.0 rad per day produced sperm at only 17% of the control level. Incidence of defective sperm was 4.9% and 11.1% in the 0.25 and 1.0 groups, respectively. Four of the 1.0-rad boars were infertile, but prenatal irradiation apparently caused neither dominant lethality nor reciprocal translocations in fertile males. Number of oocytes was reduced to 66 +/- 7% of control in the 0.25-rad gilts, but reproductive performance was unaffected and no dominant lethality was observed. Only 7 +/- 1% of the oocytes survived in the 1.0-rad group. Reproductive performance was normal for the first litter, but four of the 23 sows tested were infertile at the second litter and a significant incidence of dominant lethality was observed

Molecular Diagnostics in Transfusion Medicine: In Capillary, on a Chip, in Silico, or in Flight?

Science.gov (United States)

Garritsen, Henk S.P.; Xiu-Cheng Fan, Alex; Lenz, Daniela; Hannig, Horst; Yan Zhong, Xiao; Geffers, Robert; Lindenmaier, Werner; Dittmar, Kurt E.J.; Wörmann, Bernhard

2009-01-01

Summary Serology, defined as antibody-based diagnostics, has been regarded as the diagnostic gold standard in transfusion medicine. Nowadays however the impact of molecular diagnostics in transfusion medicine is rapidly growing. Molecular diagnostics can improve tissue typing (HLA typing), increase safety of blood products (NAT testing of infectious diseases), and enable blood group typing in difficult situations (after transfusion of blood products or prenatal non-invasive RhD typing). Most of the molecular testing involves the determination of the presence of single nucleotide polymorphisms (SNPs). Antigens (e.g. blood group antigens) mostly result from single nucleotide differences in critical positions. However, most blood group systems cannot be determined by looking at a single SNP. To identify members of a blood group system a number of critical SNPs have to be taken into account. The platforms which are currently used to perform molecular diagnostics are mostly gel-based, requiring time-consuming multiple manual steps. To implement molecular methods in transfusion medicine in the future the development of higher-throughput SNP genotyping non-gel-based platforms which allow a rapid, cost-effective screening are essential. Because of its potential for automation, high throughput and cost effectiveness the special focus of this paper is a relative new technique: SNP genotyping by MALDI-TOF MS analysis. PMID:21113259

30 CFR 250.523 - How long do I keep records of casing pressure and diagnostic tests?

Science.gov (United States)

2010-07-01

... and diagnostic tests? 250.523 Section 250.523 Mineral Resources MINERALS MANAGEMENT SERVICE... casing pressure and diagnostic tests? Records of casing pressure and diagnostic tests must be kept at the field office nearest the well for a minimum of 2 years. The last casing diagnostic test for each casing...

Prenatal diagnosis of beta-thalassaemia: experience in a developing country.

Science.gov (United States)

Saxena, R; Jain, P K; Thomas, E; Verma, I C

1998-01-01

We present our experience with the amplification refractory mutation system (ARMS) for the prenatal diagnosis of beta-thalassaemia in 415 pregnancies of 360 women. Five mutations of the beta-thalassaemia gene common in Asian Indians accounted for 89.2 per cent and rare mutations for 7.2 per cent of all mutant chromosomes, while 3.3 per cent of chromosomes remained uncharacterized. Identical mutations were present in both parents in 43.2 per cent of cases, due to caste-based marriages in India. A confirmed diagnosis was given in 401 (98.3 per cent) cases, of which a complete diagnosis (whether the fetus was normal, a carrier, or homozygous) was possible in 391 (94.2 per cent) of the cases. In 15 couples, the mutation was identified in only one parent. In nine of these, the identified mutation was not present in the fetus, predicting normal/carrier status, while in five the identified mutation was present in the fetus, suggesting carrier/affected status. The abortion rate was 3.9 per cent. Pitfalls in diagnosis were failure of oligonucleotides to work, maternal contamination, and false paternity. The ARMS provides an inexpensive, robust and non-isotopic method for the prenatal diagnosis of beta-thalassaemia in India. Recommendations are outlined for establishing a prenatal diagnostic service in developing countries.

Validation of the alcohol use module from a multidimensional prenatal psychosocial risk screening instrument.

Science.gov (United States)

Harrison, Patricia A; Godecker, Amy; Sidebottom, Abbey C

2012-12-01

The purpose of the study was to validate the Prenatal Risk Overview (PRO) Alcohol use domain against a structured diagnostic interview. The PRO was developed to screen for 13 psychosocial risk factors associated with poor birth outcomes. After clinic staff administered the PRO to prenatal patients, they asked for consent to administration of selected modules of the structured clinical interview for DSM-IV (SCID) by a research assistant. To assess the criterion validity of the PRO, low and moderate/high risk classifications from the alcohol use domain were cross-tabulated with SCID Alcohol Use Disorder variables. The study sample included 744 women. Based on PRO responses, 48.7% reported alcohol use during the 12 months before they learned they were pregnant; 5.4% reported use post pregnancy awareness. The typical quantity consumed pre-pregnancy was four or more drinks per occasion. Based on the SCID, 7.4% met DSM-IV criteria for either Alcohol Abuse or Dependence. Sensitivity and specificity of the PRO for Alcohol Use Disorders were 83.6 and 80.3%, respectively. Negative predictive value was 98.4% and positive predictive value was 25.3%. The results indicate the PRO effectively identified pregnant women with Alcohol Use Disorders. However, prenatal screening must also detect consumption patterns that do not meet diagnostic thresholds but may endanger fetal development. The PRO also identified women who continued to drink after they knew they were pregnant, as well as those whose previous drinking habits put them at risk for resumption of hazardous use.

Aquifer test interpretation using derivative analysis and diagnostic plots

Science.gov (United States)

Hernández-Espriú, Antonio; Real-Rangel, Roberto; Cortés-Salazar, Iván; Castro-Herrera, Israel; Luna-Izazaga, Gabriela; Sánchez-León, Emilio

2017-04-01

Pumping tests remain a method of choice to deduce fundamental aquifer properties and to assess well condition. In the oil and gas (O&G) industry, well testing has been the core technique in examining reservoir behavior over the last 50 years. The pressure derivative by Bourdet, it is perhaps, the most significant single development in the history of well test analysis. Recently, the so-called diagnostics plots (e.g. drawdown and drawdown derivative in a log-log plot) have been successfully tested in aquifers. However, this procedure is still underutilized by groundwater professionals. This research illustrates the applicability range, advantages and drawbacks (e.g. smoothing procedures) of diagnostic plots using field examples from a wide spectrum of tests (short/long tests, constant/variable flow rates, drawdown/buildup stages, pumping well/observation well) in dissimilar geological conditions. We analyze new and pre-existent aquifer tests in Mexico, USA, Canada, Germany, France and Saudi Arabia. In constant flow rate tests, our results show that derivative analysis is an easy, robust and powerful tool to assess near-borehole damage effects, formation heterogeneity, boundaries, flow regimes, infinite-acting radial stages, i.e., valid Theisian framework, and fracture-driven flow. In step tests, the effectiveness relies on high-frequency drawdown measurements. Moreover, we adapt O&G analytical solutions to cater for the conditions in groundwater systems. In this context, further parameters can be computed analytically from the plots, such as skin factor, head losses, wellbore storage, distance to the boundary, channel-aquifer and/or fracture zone width, among others. Therefore, diagnostic plots should be considered a mandatory tool for pumping tests analysis among hydrogeologists. This project has been supported by DGAPA (UNAM) under the research project PAPIIT IN-112815.

Variations in management of mild prenatal hydronephrosis among maternal-fetal medicine obstetricians, and pediatric urologists and radiologists.

Science.gov (United States)

Zanetta, Vitor C; Rosman, Brian M; Bromley, Bryan; Shipp, Thomas D; Chow, Jeanne S; Campbell, Jeffrey B; Herndon, C D Anthony; Passerotti, Carlo C; Cendron, Marc; Retik, Alan B; Nguyen, Hiep T

2012-11-01

There are no current guidelines for diagnosing and managing mild prenatal hydronephrosis. Variations in physician approach make it difficult to analyze outcomes and establish optimal management. We determined the variability of diagnostic approach and management regarding prenatal hydronephrosis among maternal-fetal medicine obstetricians, pediatric urologists and pediatric radiologists. Online surveys were sent to mailing lists for national societies for each specialty. Participants were surveyed regarding criteria for diagnosing mild prenatal hydronephrosis and recommendations for postnatal management, including use of antibiotic prophylaxis, followup scheduling and type of followup imaging. A total of 308 maternal-fetal medicine obstetricians, 126 pediatric urologists and 112 pediatric radiologists responded. Pediatric urologists and radiologists were divided between Society for Fetal Urology criteria and use of anteroposterior pelvic diameter for diagnosis, while maternal-fetal medicine obstetricians preferred using the latter. For postnatal evaluation radiologists preferred using personal criteria, while urologists preferred using anteroposterior pelvic diameter or Society for Fetal Urology grading system. There was wide variation in the use of antibiotic prophylaxis among pediatric urologists. Regarding the use of voiding cystourethrography/radionuclide cystography in patients with prenatal hydronephrosis, neither urologists nor radiologists were consistent in their recommendations. Finally, there was no agreement on length of followup for mild prenatal hydronephrosis. We observed a lack of uniformity regarding grading criteria in diagnosing hydronephrosis prenatally and postnatally among maternal-fetal medicine obstetricians, pediatric urologists and pediatric radiologists. There was also a lack of agreement on the management of mild intermittent prenatal hydronephrosis, resulting in these cases being managed inconsistently. A unified set of guidelines for

[Factors associated with the quality of prenatal care: an approach to premature birth].

Science.gov (United States)

Melo, Emiliana Cristina; Oliveira, Rosana Rosseto de; Mathias, Thais Aidar de Freitas

2015-08-01

To assess the quality of prenatal care in mothers with premature and term births and identify maternal and gestational factors associated with inadequate prenatal care. Cross-sectional study collecting data with the pregnant card, hospital records and interviews with mothers living in Maringa-PR. Data were collected from 576 mothers and their born alive infants who were attended in the public service from October 2013 to February 2014, using three different evaluation criteria. The association of prenatal care quality with prematurity was performed by univariate analysis and occurred only at Kessner criteria (CI=1.79;8.02). The indicators that contributed most to the inadequacy of prenatal care were tests of hemoglobin, urine, and fetal presentation. After logistic regression analysis, maternal and gestational variables associated to inadequate prenatal care were combined prenatal (CI=2.93;11.09), non-white skin color (CI=1.11;2.51); unplanned pregnancy (CI=1.34;3.17) and multiparity (CI=1.17;4.03). Prenatal care must follow the minimum recommended protocols, more attention is required to black and brown women, multiparous and with unplanned pregnancies to prevent preterm birth and maternal and child morbimortality.

Assessing Old and New Diagnostic Tests for Gastroesophageal Reflux Disease.

Science.gov (United States)

Vaezi, Michael F; Sifrim, Daniel

2018-01-01

A detailed critique of objective measurements of gastroesophageal reflux disease (GERD) would improve management of patients suspecting of having reflux, leading to rational selection of treatment and better outcomes. Many diagnostic tests for GERD have been developed over the past decades. We analyze their development, positive- and negative-predictive values, and ability to predict response to treatment. These features are important for development of medical, surgical, and endoscopic therapies for GERD. We discuss the value of available diagnostic tests and review their role in management of patients with persistent reflux symptoms despite adequate medical or surgical treatment. This is becoming a significant health economic problem, due to the widespread use of proton pump inhibitors. GERD is believed to cause nonesophageal symptoms, such as those provoked by ear, nose, throat, or respiratory disorders. We analyze the value of GERD diagnostic tests in evaluation of these troublesome, nonesophageal symptoms. Copyright © 2018 AGA Institute. Published by Elsevier Inc. All rights reserved.

Preimplantation genetic screening as an alternative to prenatal testing for Down syndrome : preferences of women undergoing in vitro fertilization/intracytoplasmic sperm injection treatment

NARCIS (Netherlands)

Twisk, Moniek; Haadsma, Maaike L.; van der Veen, Fulco; Repping, Sjoerd; Mastenbroek, Sebastiaan; Heineman, Maas-Jan; Bossuyt, Patrick M. M.; Korevaar, Johanna C.

2007-01-01

Objective: Although the primary goal of preimplantation genetic screening (PGS) is to increase pregnancy rates in women undergoing IVF/intracytoplasmic sperm injection treatment, it has been suggested that it may also be used as an alternative to prenatal testing for Down syndrome. Design: Trade-off

Preimplantation genetic screening as an alternative to prenatal testing for Down syndrome: preferences of women undergoing in vitro fertilization/intracytoplasmic sperm injection treatment

NARCIS (Netherlands)

Twisk, Moniek; Haadsma, Maaike L.; van der Veen, Fulco; Repping, Sjoerd; Mastenbroek, Sebastiaan; Heineman, Maas-Jan; Bossuyt, Patrick M. M.; Korevaar, Johanna C.

2007-01-01

Objective: Although the primary goal of preimplantation genetic screening (PGS) is to increase pregnancy rates in women undergoing IVF/intracytoplasmic sperm injection treatment, it has been suggested that it may also be used as an alternative to prenatal testing for Down syndrome. Design: Trade-off

Children's exposure to diagnostic medical radiation and cancer risk: epidemiologic and dosimetric considerations

International Nuclear Information System (INIS)

Linet, Martha S.; Rajaraman, Preetha; Kim, Kwang pyo

2009-01-01

While the etiology of most childhood cancers is largely unknown, epidemiologic studies have consistently found an association between exposure to medical radiation during pregnancy and risk of childhood cancer in offspring. The relation between early life diagnostic radiation exposure and occurrence of pediatric cancer risks is less clear. This review summarizes current and historical estimated doses for common diagnostic radiologic procedures as well as the epidemiologic literature on the role of maternal prenatal, children's postnatal and parental preconception diagnostic radiologic procedures on subsequent risk of childhood malignancies. Risk estimates are presented according to factors such as the year of birth of the child, trimester and medical indication for the procedure, and the number of films taken. The paper also discusses limitations of the methods employed in epidemiologic studies to assess pediatric cancer risks, the effects on clinical practice of the results reported from the epidemiologic studies, and clinical and public health policy implications of the findings. Gaps in understanding and additional research needs are identified. Important research priorities include nationwide surveys to estimate fetal and childhood radiation doses from common diagnostic procedures, and epidemiologic studies to quantify pediatric and lifetime cancer risks from prenatal and early childhood exposures to diagnostic radiography, CT, and fluoroscopically guided procedures. (orig.)

Dry Eye Disease: Concordance Between the Diagnostic Tests in African Eyes.

Science.gov (United States)

Onwubiko, Stella N; Eze, Boniface I; Udeh, Nnenma N; Onwasigwe, Ernest N; Umeh, Rich E

2016-11-01

To assess the concordance between the diagnostic tests for dry eye disease (DED) in a Nigerian hospital population. The study was a hospital-based cross-sectional survey of adults (≥18 years) presenting at the eye clinic of the University of Nigeria Teaching Hospital (UNTH), Enugu; September-December, 2011. Participants' socio-demographic data were collected. Each subject was assessed for DED using the "Ocular Surface Disease Index" (OSDI) questionnaire, tear-film breakup time (TBUT), and Schirmer test. The intertest concordance was assessed using kappa statistic, correlation, and regression coefficients. The participants (n=402; men: 193) were aged 50.1±19.1 standard deviation years (range: 18-94 years). Dry eye disease was diagnosed in 203 by TBUT, 170 by Schirmer test, and 295 by OSDI; the concordance between the tests were OSDI versus TBUT (Kappa, κ=-0.194); OSDI versus Schirmer (κ=-0.276); and TBUT versus Schirmer (κ=0.082). Ocular Surface Disease Index was inversely correlated with Schirmer test (Spearman ρ=-0.231, P<0.001) and TBUT (ρ=-0.237, P<0.001). In the linear regression model, OSDI was poorly predicted by TBUT (β=-0.09; 95% confidence interval (CI): -0.26 to -0.03, P=0.14) and Schirmer test (β=-0.35, 95% CI: -0.53 to -0.18, P=0.18). At UNTH, there is poor agreement, and almost equal correlation, between the subjective and objective tests for DED. Therefore, the selection of diagnostic test for DED should be informed by cost-effectiveness and diagnostic resource availability, not diagnostic efficiency or utility.

Revisited diagnostics of hereditary epidermolysis bullosa

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V. I. Albanova

2014-01-01

Full Text Available Hereditary epidermolysis bullosa is a big group of hereditary diseases with the main manifestations in the form of blisters on the skin and mucous coat after slight mechanical injuries. It is not always possible to diagnose this disease based on the clinical picture. The article discusses current laboratory diagnostics methods for hereditary epidermolysis bullosa including immunofluorescence antigen mapping (IFM, transmission electron microscopy (TEM and genetic analysis (molecular or DNA diagnostics as well as their advantages and disadvantages. TEM determines the micro splitting level and nature of ultrafine changes in the area of the dermoepidermal junction; at the same time, such tests need special expensive equipment. Substantial experience is also needed to analyze the resulting submicroscopic images. IFM determines whether expression of the affected protein related to the disease development is reduced or absent; however, invalid (false positive or false negative results can be obtained in patients with the reduced expression of the affected protein. Genetic analysis plays a key role for prenatal diagnostics. Therefore, to make an exact diagnosis of hereditary epidermolysis bullosa, it is expedient to apply IFM, TEM and genetic analysis. The need to set an exact diagnosis of the disease is related to the fact that the promising treatment methods being currently developed are aimed at treating patients with certain forms of the disease.

Genetic test utilization and diagnostic yield in adult patients with neurological disorders.

Science.gov (United States)

Bardakjian, Tanya M; Helbig, Ingo; Quinn, Colin; Elman, Lauren B; McCluskey, Leo F; Scherer, Steven S; Gonzalez-Alegre, Pedro

2018-03-28

To determine the diagnostic yield of different genetic test modalities in adult patients with neurological disorders, we evaluated all adult patients seen for genetic diagnostic evaluation in the outpatient neurology practice at the University of Pennsylvania between January 2016 and April 2017 as part of the newly created Penn Neurogenetics Program. Subjects were identified through our electronic medical system as those evaluated by the Program's single clinical genetic counselor in that period. A total of 377 patients were evaluated by the Penn Neurogenetics Program in different settings and genetic testing recommended. Of those, 182 (48%) were seen in subspecialty clinic setting and 195 (52%) in a General Neurogenetics Clinic. Genetic testing was completed in over 80% of patients in whom it was recommended. The diagnostic yield was 32% across disease groups. Stratified by testing modality, the yield was highest with directed testing (50%) and array comparative genomic hybridization (45%), followed by gene panels and exome testing (25% each). In conclusion, genetic testing can be successfully requested in clinic in a large majority of adult patients. Age is not a limiting factor for a genetic diagnostic evaluation and the yield of clinical testing across phenotypes (almost 30%) is consistent with previous phenotype-focused or research-based studies. These results should inform the development of specific guidelines for clinical testing and serve as evidence to improve reimbursement by insurance payers.

Prenatal care: preparation for childbirth in primary healthcare in the south of Brazil.

Science.gov (United States)

Gonçalves, Mariana Faria; Teixeira, Érica Mairene Bocate; Silva, Márcia Aparecida Dos Santos; Corsi, Nathalia Maciel; Ferrari, Rosângela Aparecida Pimenta; Pelloso, Sandra Marisa; Cardelli, Alexandrina Aparecida Maciel

2018-03-12

To evaluate the relationship between prenatal care and delivery guidelines In Primary Health Care. This is a cross-sectional study, with 358 puerperal women of a public maternity from the south of Brazil. The data collection was performed from July to October of 2013, with prenatal card data transcription and a structured interview. The data has been analyzed through the use of the Chi-square test (p≤0.05). The prenatal care had a high coverage (85,5%) and early start by 71,8% of the women, however, 52% of them did not receive orientation for the childbirth. There was a statistical association between receiving orientation for the childbirth and fewer visits (p=0.028), longer interval between the last prenatal visit and the childbirth (p=0.002), and the classification of the prenatal care as intermediate and inadequate (p=0.024). Despite of the ideal number of visits, the quality of care has been classified as intermediate or inadequate, besides that, precarious access to the orientation for the childbirth during the prenatal care has been evidenced.

Long term neurocognitive impact of low dose prenatal methylmercury exposure in Hong Kong.

Science.gov (United States)

Lam, Hugh Simon; Kwok, Ka Ming; Chan, Peggy Hiu Ying; So, Hung Kwan; Li, Albert Martin; Ng, Pak Cheung; Fok, Tai Fai

2013-04-01

International studies suggest that low dose prenatal methylmercury exposure (>29 nmol/L) has long-term adverse neurocognitive effects. There is evidence that the majority of children in Hong Kong exceed this level as a result of high fish consumption of mothers during pregnancy. To study whether there are any associations between low-dose prenatal methylmercury exposure and neurocognitive outcomes in Hong Kong children. All 1057 children from the original birth cohort were eligible for entry into the study, except children with conditions that would affect neurocognitive development, but were unrelated to methylmercury exposure. Subjects were assessed by a wide panel of tests covering a broad range of neurocognitive functions: Hong Kong Wechsler Intelligence Scale for Children (HK-WISC), Hong Kong List Learning Test (HKLLT), Tests of Everyday Attention for Children (TEACH), Boston Naming Test, and Grooved Pegboard Test. 608 subjects were recruited (median age 8.2 years, IQR 7.3, 8.8; 53.9% boys). After correction by confounders including child age and sex, multivariate analysis showed that cord blood mercury concentration was significantly associated with three subtests: Picture Arrangement of HK-WISC (coefficient -0.944, P=0.049) and Short and Long Delay Recall Difference of the HKLLT (coefficient -1.087, P=0.007 and coefficient -1.161, P=0.005, respectively), i.e., performance worsened with increasing prenatal methylmercury exposure in these subtests. Small, but statistically significant adverse associations between prenatal methylmercury exposure and long-term neurocognitive effects (a visual sequencing task and retention ability of verbal memory) were found in our study. These effects are compatible with findings of studies with higher prenatal methylmercury exposure levels and suggest that safe strategies to further reduce exposure levels in Hong Kong are desirable. Copyright © 2013 Elsevier Ltd. All rights reserved.

Prenatal anxiety effects: A review.

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Field, Tiffany

2017-11-01

This review is based on literature on prenatal anxiety effects that was found on Pubmed and PsycINFO for the years 2010-2016. Prenatal anxiety is thought to have distinct features, although it has been measured both by specific prenatal anxiety symptoms as well as by standardized anxiety scales. Its prevalence has ranged from 21 to 25% and it has been predicted by a number of pregnancy - related variables such as unintended pregnancy, demographic variables such as low acculturation and income and psychosocial factors including pessimism and partner tension. Prenatal anxiety effects on pregnancy include increased cortisol levels, pro-inflammatory cytokines, obstetric problems and cesarean section. Effects on the neonate include lower gestational age, prematurity, less insulin-like growth factor in cord blood, less exclusive breast-feeding and less self-regulation during the heelstick procedure. Prenatal anxiety effects continue into infancy and childhood both on physiological development and emotional/mental development. Among the physiological effects are lower vagal activity across the first two years, and lower immunity, more illnesses and reduced gray matter in childhood. Prenatal anxiety effects on emotional/mental development include greater negative emotionality and in infants, lower mental development scores and internalizing problems. Anxiety disorders occur during childhood and elevated cortisol and internalizing behaviors occur during adolescence. Interventions for prenatal anxiety are virtually nonexistent, although stroking (massaging) the infant has moderated the pregnancy - specific anxiety effects on internalizing behaviors in the offspring. The limitations of this literature include the homogeneity of samples, the frequent use of anxiety measures that are not specific to pregnancy, and the reliance on self-report. Nonetheless, the literature highlights the negative, long-term effects of prenatal anxiety and the need for screening and early

Efficient Noninferiority Testing Procedures for Simultaneously Assessing Sensitivity and Specificity of Two Diagnostic Tests

Directory of Open Access Journals (Sweden)

Guogen Shan

2015-01-01

Full Text Available Sensitivity and specificity are often used to assess the performance of a diagnostic test with binary outcomes. Wald-type test statistics have been proposed for testing sensitivity and specificity individually. In the presence of a gold standard, simultaneous comparison between two diagnostic tests for noninferiority of sensitivity and specificity based on an asymptotic approach has been studied by Chen et al. (2003. However, the asymptotic approach may suffer from unsatisfactory type I error control as observed from many studies, especially in small to medium sample settings. In this paper, we compare three unconditional approaches for simultaneously testing sensitivity and specificity. They are approaches based on estimation, maximization, and a combination of estimation and maximization. Although the estimation approach does not guarantee type I error, it has satisfactory performance with regard to type I error control. The other two unconditional approaches are exact. The approach based on estimation and maximization is generally more powerful than the approach based on maximization.

Prenatal Air Pollution Exposure and Early Cardiovascular Phenotypes in Young Adults.

Directory of Open Access Journals (Sweden)

Carrie V Breton

Full Text Available Exposure to ambient air pollutants increases risk for adverse cardiovascular health outcomes in adults. We aimed to evaluate the contribution of prenatal air pollutant exposure to cardiovascular health, which has not been thoroughly evaluated. The Testing Responses on Youth (TROY study consists of 768 college students recruited from the University of Southern California in 2007-2009. Participants attended one study visit during which blood pressure, heart rate and carotid artery arterial stiffness (CAS and carotid artery intima-media thickness (CIMT were assessed. Prenatal residential addresses were geocoded and used to assign prenatal and postnatal air pollutant exposure estimates using the U.S. Environmental Protection Agency's Air Quality System (AQS database. The associations between CAS, CIMT and air pollutants were assessed using linear regression analysis. Prenatal PM10 and PM2.5 exposures were associated with increased CAS. For example, a 2 SD increase in prenatal PM2.5 was associated with CAS indices, including a 5% increase (β = 1.05, 95% CI 1.00-1.10 in carotid stiffness index beta, a 5% increase (β = 1.05, 95% CI 1.01-1.10 in Young's elastic modulus and a 5% decrease (β = 0.95, 95% CI 0.91-0.99 in distensibility. Mutually adjusted models of pre- and postnatal PM2.5 further suggested the prenatal exposure was most relevant exposure period for CAS. No associations were observed for CIMT. In conclusion, prenatal exposure to elevated air pollutants may increase carotid arterial stiffness in a young adult population of college students. Efforts aimed at limiting prenatal exposures are important public health goals.

Compounding diagnostic delays: a qualitative study of point-of-care testing in South Africa.

Science.gov (United States)

Engel, Nora; Davids, Malika; Blankvoort, Nadine; Pai, Nitika Pant; Dheda, Keertan; Pai, Madhukar

2015-04-01

Successful point-of-care (POC) testing (completion of test-and-treat cycle in one patient encounter) has immense potential to reduce diagnostic and treatment delays, and improve patient and public health outcomes. We explored what tests are done and how in public/private, rural/urban hospitals and clinics in South Africa and whether they can ensure successful POC testing. This qualitative research study examined POC testing across major diseases in Cape Town, Durban and Eastern Cape. We conducted 101 semi-structured interviews and seven focus group discussions with doctors, nurses, community health workers, patients, laboratory technicians, policymakers, hospital managers and diagnostic manufacturers. In South Africa, diagnostics are characterised by a centralised system. Most tests conducted on the spot can be made to work successfully as POC tests. The majority of public/private clinics and smaller hospitals send samples via couriers to centralised laboratories and retrieve results the same way, via internet, fax or phone. The main challenge to POC testing lies in transporting samples and results, while delays risk patient loss from diagnostic/treatment pathways. Strategies to deal with associated delays create new problems, such as artificially prolonged turnaround times, strains on human resources and quality of testing, compounding additional diagnostic and treatment delays. For POC testing to succeed, particular characteristics of diagnostic ecosystems and adaptations of professional practices to overcome associated challenges must be taken into account. © 2014 John Wiley & Sons Ltd.

Measuring adequacy of prenatal care: does missing visit information matter?

Science.gov (United States)

Kurtzman, Jordan H; Wasserman, Erin B; Suter, Barbara J; Glantz, J Christopher; Dozier, Ann M

2014-09-01

Kotelchuck's Adequacy of Prenatal Care Utilization (APNCU) Index is frequently used to classify levels of prenatal care. In the Finger Lakes Region (FLR) of upstate New York, prenatal care visit information late in pregnancy is often not documented on the birth certificate. We studied the extent of this missing information and its impact on the validity of regional APNCU scores. We calculated the "weeks between" a mother's last prenatal care visit and her infant's date of birth. We adjusted the APNCU algorithm creating the Last Visit Adequacy of Prenatal Care (LV-APNC) Index using the last recorded prenatal care visit date as the end point of care and the expected number of visits at that time. We compared maternal characteristics by care level with each index, examining rates of reclassification and number of "weeks between" by birth hospital. Stuart-Maxwell, McNemar, chi-square, and t-tests were used to determine statistical significance. Based on 58,462 births, the mean "weeks between" was 2.8 weeks. Compared with their APNCU Index score, 42.4 percent of mothers were reclassified using the LV-APNC Index. Major movement occurred from Intermediate (APNCU) to Adequate or Adequate Plus (LV-APNC) leaving the Intermediate Care group a more at-risk group of mothers. Those with Adequate or Adequate Plus Care (LV-APNC) increased by 31.6 percent, surpassing the Healthy People 2020 objective. In the FLR, missing visit information at the end of pregnancy results in an underestimation of mothers' prenatal care. Future research is needed to determine the extent of this missing visit information on the national level. © 2014 Wiley Periodicals, Inc.

Prenatal vitamins: what is in the bottle?

Science.gov (United States)

Duerbeck, Norman B; Dowling, David D; Duerbeck, Jillinda M

2014-12-01

Nearly all obstetricians routinely prescribe prenatal vitamins to their pregnant patients at the time of the first prenatal visit. Many times, patients' understanding of the health benefits of prenatal vitamins differs substantially from that of the prescribing physician. The following is a review of the most common ingredients found in prenatal vitamins and their purported health benefits.

A comparison of rapid diagnostic testing (by plasmodium lactate ...

African Journals Online (AJOL)

Background: The World Health Organization (WHO) considers early and rapid diagnosis as one of the strategies to control malaria. This study compared the performance of Quantitative Buffy Coat (QBC) test and the Plasmodium lactate dehydrogenase (pLDH) rapid diagnostic test (RDT) with microscopy as the gold ...

Consumerism in prenatal diagnosis? A local Italian study.

Science.gov (United States)

Bellieni, C V; Maffei, M; Brogna, A; Plantulli, A; Cervo, E; Reda, M; Signorini, L; Buonocore, G; Petraglia, F

2008-01-01

To assess the causes of excessive use of prenatal diagnosis. 304 questionnaires were completed anonymously by puerperae in a Siena (Italy) hospital in May-August 2006. The questionnaires contained 24 questions about the women, examinations performed during pregnancy and the reasons for them. The mean number of ultrasound examinations per woman was 6.5 +/- 2.5. Forty-two percent of the women in our sample (29.3% of women under 35 and 68.9% of women over 35 years of age) reported that amniocentesis/CVS had been performed; the mean age of these women was 34.1 +/- 4.5 years. Eighty-five percent of the women under 36 years of age who had amniocentesis declared that it was performed as a personal choice and 15% for the presence of risk factors. Among 131 women who performed amniocentesis, 32 performed it with a normal blood screening for Down syndrome (DS), and 76 declared to have performed no blood screening for DS. Only 45% of women stated that they thought age above 35 years was a risk factor for pregnancy, but most of them (75%) were aware that amniocentesis was performed to detect chromosomal anomalies. In 89% of the cases a source of information about prenatal testing was the woman's gynecologist. This study shows that the high use of prenatal examinations is often not justified by the presence of clinical risk factors and that both national health system and caregivers should find new strategies to inform women about the aims of prenatal tests, and promote a more serene approach to pregnancy. A broader study is needed to confirm these data. Copyright 2008 S. Karger AG, Basel.

Technology diffusion and diagnostic testing for prostate cancer

Science.gov (United States)

Schroeck, Florian R.; Kaufman, Samuel R.; Jacobs, Bruce L.; Skolarus, Ted A.; Miller, David C.; Weizer, Alon Z.; Montgomery, Jeffrey S.; Wei, John T.; Shahinian, Vahakn B.; Hollenbeck, Brent K.

2013-01-01

Purpose While the dissemination of robotic prostatectomy and intensity-modulated radiotherapy (IMRT) may fuel increased use of prostatectomy and radiotherapy, these new technologies may also have spillover effects related to diagnostic testing for prostate cancer. Therefore, we examined the association of regional technology penetration with receipt of prostate specific antigen (PSA) testing and prostate biopsy. Methods In this retrospective cohort study, we included 117,857 men age 66 and older from the 5% sample of Medicare beneficiaries living in the Surveillance Epidemiology and End Results (SEER) areas from 2003 – 2007. Regional technology penetration was measured as the number of providers performing robotic prostatectomy or IMRT per population in a healthcare market (i.e., hospital referral region). We assessed the association of technology penetration with rates of PSA testing and prostate biopsy with generalized estimating equations. Results High technology penetration was associated with increased rates of PSA testing (442 versus 425 per 1,000 person-years, pimpact of technology penetration on PSA testing and prostate biopsy was much smaller than the effect of age, race, and comorbidity (e.g., PSA testing rate per 1,000 person-years: 485 versus 373 for men with only one versus 3+ co-morbid conditions, ppenetration was associated with slightly higher rates of PSA testing and no change in prostate biopsy rates. Collectively, our findings temper concerns that adoption of new technology accelerates diagnostic testing for prostate cancer. PMID:23669564

[Prenatal genetic diagnosis for two Chinese families affected with oculocutaneous albinism type Ⅱ].

Science.gov (United States)

Hu, Hao; Wang, Hua; Jia, Zhengjun; Xie, Qiong

2014-08-01

To perform genotyping analysis and subsequent prenatal genetic diagnosis for two families affected with oculocutaneous albinism (OCA). Direct sequencing of TYR and P genes was performed in two albino probands. Family members were screened for corresponding mutant alleles. Prenatal genetic diagnoses were performed at early pregnancy by chorionic villus sampling (CVS) at mid-pregnancy through amniocentesis. No mutations were detected in the TYR gene in either probands, whereas 4 heterozygous mutations of the P gene were found, namely c.406C>T, c.535A>G, c.808-2A>G and c.2180T>C, among which c.535A>G and c.808-2A>G were novel. In the first round prenatal genetic testing, both fetuses were found to have the same genotypes as the probands. Both families had decided to terminate the pregnancy after genetic counseling. In the second round testing, neither of the fetuses was found to be affected by genotyping. The pregnancies continued and two healthy fetuses were born. OCA can be classified by genotyping, with which reliable prenatal diagnosis and feasible genetic counseling may be provided.

Evaluation of Diagnostic Tests Using Information Theory for Multi-Class Diagnostic Problems and its Application for the Detection of Occlusal Caries Lesions

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Umut Arslan

2014-09-01

Full Text Available Background: Several methods are available to evaluate the performance of the tests when the purpose of the diagnostic test is to discriminate between two possible disease states. However multi-class diagnostic problems frequently appear in many areas of medical science. Hence, there is a need for methods which will enable us to characterize the accuracy of diagnostic tests when there are more than two possible disease states. Aims: To show that two information theory measures, information content (IC and proportional reduction in diagnostic uncertainty (PRDU, can be used for the evaluation of the performance of diagnostic tests for multi-class diagnostic problems that may appear in different areas of medical science. Study Design: Diagnostic accuracy study. Methods: Sixty freshly extracted permanent human molar and premolar teeth suspected to have occlusal caries lesions were selected for the study and were assessed by two experienced examiners. Each examiner performed two evaluations. Histological examination was used as the gold standard. The scores of the histological examination were defined as sound (n=11, enamel caries (n=22 and dentin caries (n=27. Diagnostic performance of i visual inspection, ii radiography, iii laser fluorescence (LF and iv micro-computed tomography (M-CT caries detection methods was evaluated by calculating IC and PRDU. Results: Micro-computed tomography examination was the best method among the diagnostic techniques for the diagnosis of occlusal caries in terms of both IC and PRDU. M-CT examination supplied the maximum diagnostic information about the diagnosis of occlusal caries in the first (IC: 1.056; p<0.05, (PRDU: 70.5% and second evaluation (IC: 1.105; p<0.05, (PRDU: 73.8% for the first examiner. M-CT examination was the best method among the diagnostic techniques for the second examiner in both the first (IC:1.105; p<0.05, (PRDU:73.8% and second evaluation (IC:1.061; p<0.05, (PRDU:70.8%. IC and PRDU were

Cost Implications of Value-Based Pricing for Companion Diagnostic Tests in Precision Medicine.

Science.gov (United States)

Zaric, Gregory S

2016-07-01

Many interpretations of personalized medicine, also referred to as precision medicine, include discussions of companion diagnostic tests that allow drugs to be targeted to those individuals who are most likely to benefit or that allow treatment to be designed in a way such that individuals who are unlikely to benefit do not receive treatment. Many authors have commented on the clinical and competitive implications of companion diagnostics, but there has been relatively little formal analysis of the cost implications of companion diagnostics, although cost reduction is often cited as a significant benefit of precision medicine. We investigate the potential impact on costs of precision medicine implemented through the use of companion diagnostics. We develop a framework in which the costs of companion diagnostic tests are determined by considerations of profit maximization and cost effectiveness. We analyze four scenarios that are defined by the incremental cost-effectiveness ratio of the new drug in the absence of a companion diagnostic test. We find that, in most scenarios, precision medicine strategies based on companion diagnostics should be expected to lead to increases in costs in the short term and that costs would fall only in a limited number of situations.

Developing and Standardization of a Diagnostic Reading Test

Directory of Open Access Journals (Sweden)

Tahereh Sima-Shirazi

2004-06-01

Full Text Available Objective: This paper is a report on the development, structure and content of a diagnostic dyslexia reading test. The target population of this test is persian children who have problems in learning reading and may be considered as dyslexic. This diagnostic test is the first reading test developed for the native speakers of persian. Materials & Methods: The theoretical framework of the test is based on two well- established reading tests for the English speaking children, namely Durrell Analysis of Reading and Neale Analysis of Reading Ability. The linguistic content of the subtests is selected from the vocabulary and texts of the textbook used in the primary schools. Both the vocabulary and the sentences of the parrallel passeges were controlled for frequency, phonemic/graphemic regularity, syllable structure, morphology, syntax and semantics. They were also controlled for value judgement by two linguistics and three first grader teachers.The first version of the test is normed on 605 boy and girl first graders from different educational sectors and schools selected randomly.The method used in this research is cross- sectional, descriptive- analytic and the data analysis is based on pearson, and mann-whitney u. Results: Reliability of the test is calculated based on parrallel forms (~ 90% and validity is based on content validity.This test has a supplementary section including spelling, graphem/ phoneme correspondness, nonword reading, irregular word reading, and copy subtests. Conclusion: Considering highreliability and precise validation of the test it can be used to diagnose the dyslexia and related linguistic impairments.

Systematic reviews of diagnostic tests in endocrinology: an audit of methods, reporting, and performance.

Science.gov (United States)

Spencer-Bonilla, Gabriela; Singh Ospina, Naykky; Rodriguez-Gutierrez, Rene; Brito, Juan P; Iñiguez-Ariza, Nicole; Tamhane, Shrikant; Erwin, Patricia J; Murad, M Hassan; Montori, Victor M

2017-07-01

Systematic reviews provide clinicians and policymakers estimates of diagnostic test accuracy and their usefulness in clinical practice. We identified all available systematic reviews of diagnosis in endocrinology, summarized the diagnostic accuracy of the tests included, and assessed the credibility and clinical usefulness of the methods and reporting. We searched Ovid MEDLINE, EMBASE, and Cochrane CENTRAL from inception to December 2015 for systematic reviews and meta-analyses reporting accuracy measures of diagnostic tests in endocrinology. Experienced reviewers independently screened for eligible studies and collected data. We summarized the results, methods, and reporting of the reviews. We performed subgroup analyses to categorize diagnostic tests as most useful based on their accuracy. We identified 84 systematic reviews; half of the tests included were classified as helpful when positive, one-fourth as helpful when negative. Most authors adequately reported how studies were identified and selected and how their trustworthiness (risk of bias) was judged. Only one in three reviews, however, reported an overall judgment about trustworthiness and one in five reported using adequate meta-analytic methods. One in four reported contacting authors for further information and about half included only patients with diagnostic uncertainty. Up to half of the diagnostic endocrine tests in which the likelihood ratio was calculated or provided are likely to be helpful in practice when positive as are one-quarter when negative. Most diagnostic systematic reviews in endocrine lack methodological rigor, protection against bias, and offer limited credibility. Substantial efforts, therefore, seem necessary to improve the quality of diagnostic systematic reviews in endocrinology.

Prenatal Diagnosis of Concurrent Achondroplasia and Klinefelter Syndrome

Directory of Open Access Journals (Sweden)

Esther Perez-Carbajo

2015-01-01

Full Text Available Achondroplasia is the most frequent nonlethal skeletal dysplasia, with a prevalence of 1 : 5000 to 1 : 40,000 live births, and it is caused by a fibroblast growth factor receptor alteration. The combination of achondroplasia and Klinefelter syndrome is extremely rare and just four reports have been published in the literature, which were all diagnosed postnatally. We report the fifth case described of this uncommon association and its prenatal diagnosis. In cases of prenatal diagnosis of achondroplasia with additional suspicious morphological abnormalities, an invasive test such as amniocentesis must be carried out to assess the karyotype normality.

A general diagnostic model applied to language testing data.

Science.gov (United States)

von Davier, Matthias

2008-11-01

Probabilistic models with one or more latent variables are designed to report on a corresponding number of skills or cognitive attributes. Multidimensional skill profiles offer additional information beyond what a single test score can provide, if the reported skills can be identified and distinguished reliably. Many recent approaches to skill profile models are limited to dichotomous data and have made use of computationally intensive estimation methods such as Markov chain Monte Carlo, since standard maximum likelihood (ML) estimation techniques were deemed infeasible. This paper presents a general diagnostic model (GDM) that can be estimated with standard ML techniques and applies to polytomous response variables as well as to skills with two or more proficiency levels. The paper uses one member of a larger class of diagnostic models, a compensatory diagnostic model for dichotomous and partial credit data. Many well-known models, such as univariate and multivariate versions of the Rasch model and the two-parameter logistic item response theory model, the generalized partial credit model, as well as a variety of skill profile models, are special cases of this GDM. In addition to an introduction to this model, the paper presents a parameter recovery study using simulated data and an application to real data from the field test for TOEFL Internet-based testing.

Prenatal exposure to gamma/neutron irradiation: Sensorimotor alterations and paradoxical effects on learning

International Nuclear Information System (INIS)

Di Cicco, D.; Antal, S.; Ammassari-Teule, M.

1991-01-01

The effects of prenatal exposure on gamma/neutron radiations (0.5 Gy at about the 18th day of fetal life) were studied in a hybrid strain of mice (DBA/Cne males x C57BL/Cne females). During ontogeny, measurements of sensorimotor reflexes revealed in prenatally irradiated mice (1) a delay in sensorial development, (2) deficits in tests involving body motor control, and (3) a reduction of both motility and locomotor activity scores. In adulthood, the behaviour of prenatally irradiated and control mice was examined in the open field test and in reactivity to novelty. Moreover, their learning performance was compared in several situations. The results show that, in the open field test, only rearings were more frequent in irradiated mice. In the presence of a novel object, significant sex x treatment interactions were observed since ambulation and leaning against the novel object increased in irradiated females but decreased in irradiated males. Finally, when submitted to different learning tasks, irradiated mice were impaired in the radial maze, but paradoxically exhibited higher avoidance scores than control mice, possibly because of their low pain thresholds. Taken together, these observations indicate that late prenatal gamma/neutron irradiation induces long lasting alterations at the sensorimotor level which, in turn, can influence learning abilities of adult mice

Common pitfalls in statistical analysis: Understanding the properties of diagnostic tests - Part 1.

Science.gov (United States)

Ranganathan, Priya; Aggarwal, Rakesh

2018-01-01

In this article in our series on common pitfalls in statistical analysis, we look at some of the attributes of diagnostic tests (i.e., tests which are used to determine whether an individual does or does not have disease). The next article in this series will focus on further issues related to diagnostic tests.

Genes Underlying Positive Influence Of Prenatal Environmental ...

African Journals Online (AJOL)

Genes Underlying Positive Influence Of Prenatal Environmental Enrichment And ... Prenatal environmental enrichment (EE) has been proven to positively affect but ... Conclusion: The negative-positive prenatal effect could contribute to altered ...

Prenatal exposure to an environmentally relevant phthalate mixture disrupts reproduction in F1 female mice

Energy Technology Data Exchange (ETDEWEB)

Zhou, Changqing; Gao, Liying; Flaws, Jodi A., E-mail: jflaws@illinois.edu

2017-03-01

Phthalates are used in a large variety of products, such as building materials, medical devices, and personal care products. Most previous studies on the toxicity of phthalates have focused on single phthalates, but it is also important to study the effects of phthalate mixtures because humans are exposed to phthalate mixtures. Thus, we tested the hypothesis that prenatal exposure to an environmentally relevant phthalate mixture adversely affects female reproduction in mice. To test this hypothesis, pregnant CD-1 dams were orally dosed with vehicle (tocopherol-stripped corn oil) or a phthalate mixture (20 and 200 μg/kg/day, 200 and 500 mg/kg/day) daily from gestational day 10 to birth. The mixture was based on the composition of phthalates detected in urine samples from pregnant women in Illinois. The mixture included 35% diethyl phthalate, 21% di(2-ethylhexyl) phthalate, 15% dibutyl phthalate, 15% diisononyl phthalate, 8% diisobutyl phthalate, and 5% benzylbutyl phthalate. Female mice born to the exposed dams were subjected to tissue collections and fertility tests at different ages. Our results indicate that prenatal exposure to the phthalate mixture significantly increased uterine weight and decreased anogenital distance on postnatal days 8 and 60, induced cystic ovaries at 13 months, disrupted estrous cyclicity, reduced fertility-related indices, and caused some breeding complications at 3, 6, and 9 months of age. Collectively, our data suggest that prenatal exposure to an environmentally relevant phthalate mixture disrupts aspects of female reproduction in mice. - Highlights: • Prenatal exposure to a phthalate mixture disrupts F1 estrous cyclicity. • Prenatal exposure to a phthalate mixture induces F1 ovarian cysts. • Prenatal exposure to a phthalate mixture decreases F1 female fertility-related indices. • Prenatal exposure to a phthalate mixture induces F1 breeding complications.

Prenatal Care: New Hampshire Residents - 1976.

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Mires, Maynard H.; Sirc, Charles E.

Data from 1976 New Hampshire birth certificates were used to examine the correlations between the degree (month of pregnancy that prenatal care began) and intensity (number of prenatal visits) of prenatal care and low infant birth weight, illegitimacy, maternal age, maternal education, and complications of pregnancy. The rate of low birth weight…

Diagnostic development and support of MHD (magnetohydrodynamics) test facilities

Energy Technology Data Exchange (ETDEWEB)

1989-07-01

Mississippi State University (MSU) is developing diagnostic instruments for Magnetohydrodynamics (MHD) power train data acquisition and for support of MHD component development test facilities. Microprocessor-controlled optical instruments, initially developed for HRSR support, are being refined, and new systems to measure temperatures and gas-seed-slag stream characteristics are being developed. To further data acquisition and analysis capabilities, the diagnostic systems are being interfaced with MHD Energy Center computers. Technical support for the diagnostic needs of the national MHD research effort is being provided. MSU personnel will also cooperate with government agencies and private industries to improve the transformation of research and development results into processes, products and services applicable to their needs.

The glucose breath test: a diagnostic test for small bowel stricture(s) in Crohn's disease.

Science.gov (United States)

Mishkin, Daniel; Boston, Francis M; Blank, David; Yalovsky, Morty; Mishkin, Seymour

2002-03-01

The aim of this study was to determine whether an indirect noninvasive indicator of proximal bacterial overgrowth, the glucose breath test, was of diagnostic value in inflammatory bowel disease. Twenty four of 71 Crohn's disease patients tested had a positive glucose breath test. No statistical conclusions could be drawn between the Crohn's disease activity index and glucose breath test status. Of patients with radiologic evidence of small bowel stricture(s), 96.0% had a positive glucose breath test, while only one of 46 negative glucose breath test patients had a stricture. The positive and negative predictive values for a positive glucose breath test as an indicator of stricture formation were 96.0% and 97.8%, respectively. This correlation was not altered in Crohn's disease patients with fistulae or status postresection of the terminal ileum. The data in ulcerative colitis were nondiagnostic. In conclusion, the glucose breath test appears to be an accurate noninvasive inexpensive diagnostic test for small bowel stricture(s) and secondary bacterial overgrowth in Crohn's disease.

30 CFR 250.520 - When do I have to perform a casing diagnostic test?

Science.gov (United States)

2010-07-01

... 30 Mineral Resources 2 2010-07-01 2010-07-01 false When do I have to perform a casing diagnostic... Operations Casing Pressure Management § 250.520 When do I have to perform a casing diagnostic test? (a) You must perform a casing diagnostic test within 30 days after first observing or imposing casing pressure...

[Pathogenic Mechanism and Diagnostic Testing for Drug Allergies].

Science.gov (United States)

Uno, Katsuji

2018-01-01

　Three stages of the pathogenic mechanism of drug allergies can be considered: antigen formation, immune reaction and inflammation/disorder reaction. Drugs are thought to form 4 types of antigens: drug only, polymers, drug-carrier conjugates, and metabolite-carrier complexes. Antigens are recognized by B cell receptors and T cell receptors. Helper T cells (Th) are differentiated into four subsets, namely, Th1, Th2, Th17 and regulatory T cells (Treg). Th1 produces interleukin (IL)-2 and interferon (IFN)-γ, and activates macrophages and cytotoxic T cells (Tc). Macrophages induce type IV allergies, and Tc lead to serious type IV allergies. On the other hand, Th2 produces IL-4, IL-5, and IL-6, etc., and activates B cells. B cells produce IgE antibodies, and the IgE antibody affects mast cells and induces type I allergies. Activated eosinophil leads to the chronic state of type I allergy. Diagnostic testing for allergenic drugs is necessary for patients with drug allergies. Because in vivo diagnostic tests for allergenic drugs are associated with a risk and burden to the patient, in vitro allergy tests are recommended to identify allergenic drugs. In allergy tests performed in vitro, cytological tests are more effective than serological tests, and the leukocyte migration test (LMT) presently has the highest efficacy. An LMT-chamber is better than LMT-agarose in terms of usability and sensitivity, and it can detect about 80% of allergenic drugs.

Neurodevelopmental Outcomes of Prenatal Stress

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M. Genco Usta

2012-03-01

Full Text Available The influence of prenatal stress on psychopathology has been observed in many animal and human studies. In many studies, stress during prenatal period has been shown to result in negative feedback dysregulation and hyperactivity of hypothalamo-pituitary-adrenocortical axis. Prenatal stres also may cause increased risk of birth complications, startle or distress in response to novel and surprising stimuli during infancy; lower Full Scale IQs, language abilities and attention deficiency in period of 3-5 years; increased risk of attention deficit hyperactivity syndrome, anxiety symptoms, depressive disorder and impulsivity during adolescence. Additionally, timing of prenatal stress is also important and 12-22 weeks of gestation seems to be the most vulnerable period. The results underline the need for early prevention and intervention programs for highly anxious women during pregnancy. Administration of prenatal stress monitoring to public health programs or removing pregnant women who have been exposed to life events such as natural disaster, terror attack to secure areas that provide basic needs may be crucial.

Effects of prenatal stress and emotional reactivity of the mother on emotional and cognitive abilities in lambs.

Science.gov (United States)

Coulon, Marjorie; Nowak, Raymond; Andanson, Stephane; Petit, Bérengère; Lévy, Frédéric; Boissy, Alain

2015-07-01

Consequences of prenatal stress on emotional reactivity and cognitive abilities in offspring are under-documented in precocial mammals. Here, we investigated to what extent emotional reactivity, judgment bias and spatial learning abilities of lambs are affected by chronic stress during late pregnancy and by their dams' emotional reactivity. The 20 highest-responsive (HR) and 20 lowest-responsive (LR) ewes from a population of 120 Romane ewes were selected according to their pre-mating reactivity to social isolation in a new environment. Over the final third of pregnancy, 10 HR ewes and 10 LR ewes were exposed daily to various unpredictable aversive events such as restraint, mixing groups and transport while the other 20 selected ewes were not. In a human and an object test, prenatally-stressed lambs were more fearful than control lambs, but the prenatal stress effect was moderated by the reactivity of the mothers: prenatally-stressed lambs from ewes with high emotional reactivity were more affected. Prenatally-stressed lambs did not perform as well as control lambs in a maze test and showed pessimistic-like judgment in a cognitive bias test. Prenatally-stressed lambs were thus characterized by a negative affective state with increased fear reactions and impaired cognitive evaluation. The development of negative moods could have long-lasting consequences on the coping strategies of the lambs in response to their rearing conditions. © 2015 Wiley Periodicals, Inc.

Prenatal IV Cocaine: Alterations in Auditory Information Processing

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Charles F. Mactutus

2011-06-01

Full Text Available One clue regarding the basis of cocaine-induced deficits in attentional processing is provided by the clinical findings of changes in the infants’ startle response; observations buttressed by neurophysiological evidence of alterations in brainstem transmission time. Using the IV route of administration and doses that mimic the peak arterial levels of cocaine use in humans, the present study examined the effects of prenatal cocaine on auditory information processing via tests of the acoustic startle response (ASR, habituation, and prepulse inhibition (PPI in the offspring. Nulliparous Long-Evans female rats, implanted with an IV access port prior to breeding, were administered saline, 0.5, 1.0, or 3.0 mg/kg/injection of cocaine HCL (COC from gestation day (GD8-20 (1x/day-GD8-14, 2x/day-GD15-20. COC had no significant effects on maternal/litter parameters or growth of the offspring. At 18-20 days of age, one male and one female, randomly selected from each litter displayed an increased ASR (>30% for males at 1.0 mg/kg and >30% for females at 3.0 mg/kg. When reassessed in adulthood (D90-100, a linear dose-response increase was noted on response amplitude. At both test ages, within-session habituation was retarded by prenatal cocaine treatment. Testing the females in diestrus vs. estrus did not alter the results. Prenatal cocaine altered the PPI response function across interstimulus interval (ISI and induced significant sex-dependent changes in response latency. Idazoxan, an alpha2-adrenergic receptor antagonist, significantly enhanced the ASR, but less enhancement was noted with increasing doses of prenatal cocaine. Thus, in utero exposure to cocaine, when delivered via a protocol designed to capture prominent features of recreational usage, causes persistent, if not permanent, alterations in auditory information processing, and suggests dysfunction of the central noradrenergic circuitry modulating, if not mediating, these responses.

Neurobiology and neurodevelopmental impact of childhood traumatic stress and prenatal alcohol exposure.

Science.gov (United States)

Henry, Jim; Sloane, Mark; Black-Pond, Connie

2007-04-01

Research reveals that prenatal alcohol exposure and child trauma (i.e., abuse, neglect, sexual abuse) can have deleterious effects on child development across multiple domains. This study analyzed the impact on childhood neurodevelopment of prenatal alcohol exposure and postnatal traumatic experience compared to postnatal traumatic experience alone. Although the harmful effects of both have been well documented individually, there is no research documenting the concurrent effects of prenatal alcohol exposure and postnatal trauma on a child's developmental process. Transdisciplinary assessment of the children included the core disciplines of medicine, speech-language pathology, occupational therapy, social work, and psychology. Medical examination, standardized developmental and intelligence testing, projective tools, parent questionnaires, and psychosocial interviews provided information in the primary developmental areas. Findings indicated that children who had been exposed prenatally to alcohol along with postnatal traumatic experience had lower intelligence scores and more severe neurodevelopmental deficits in language, memory, visual processing, motor skills, and attention than did traumatized children without prenatal alcohol exposure, as well as greater oppositional/defiant behavior, inattention, hyperactivity, impulsivity, and social problems. Successful teacher and speech-language pathologist interventions with traumatized children with prenatal alcohol exposure demand a paradigm shift that requires the development of new perspectives and ongoing training.

Get the Diagnosis: an evidence-based medicine collaborative Wiki for diagnostic test accuracy.

Science.gov (United States)

Hammer, Mark M; Kohlberg, Gavriel D

2017-04-01

Despite widespread calls for its use, there are challenges to the implementation of evidence-based medicine (EBM) in clinical practice. In response to the challenges of finding timely, pertinent information on diagnostic test accuracy, we developed an online, crowd-sourced Wiki on diagnostic test accuracy called Get the Diagnosis (GTD, http://www.getthediagnosis.org). Since its launch in November 2008 till October 2015, GTD has accumulated information on 300 diagnoses, with 1617 total diagnostic entries. There are a total of 1097 unique diagnostic tests with a mean of 5.4 tests (range 0-38) per diagnosis. 73% of entries (1182 of 1617) have an associated sensitivity and specificity and 89% of entries (1432 of 1617) have associated peer-reviewed literature citations. Altogether, GTD contains 474 unique literature citations. For a sample of three diagnoses, the search precision (percentage of relevant results in the first 30 entries) in GTD was 100% as compared with a range of 13.3%-63.3% for PubMed and between 6.7% and 76.7% for Google Scholar. GTD offers a fast, precise and efficient way to look up diagnostic test accuracy. On three selected examples, GTD had a greater precision rate compared with PubMed and Google Scholar in identifying diagnostic test information. GTD is a free resource that complements other currently available resources. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

Prenatal Care: Third Trimester Visits

Science.gov (United States)

... Pregnancy week by week During the third trimester, prenatal care might include vaginal exams to check the baby's position. By Mayo Clinic Staff Prenatal care is an important part of a healthy pregnancy, ...

What is the role of clinical tests and ultrasound in acetabular labral tear diagnostics?

DEFF Research Database (Denmark)

Troelsen, Anders; Mechlenburg, Inger; Gelineck, John

2009-01-01

BACKGROUND AND PURPOSE: An acetabular labral tear is a diagnostic challenge. Various clinical tests have been described, but little is known about their diagnostic sensitivity and specificity. We investigated the diagnostic validity of clinical tests and ultrasound as compared with MR arthrography...... no or only slight signs of osteoarthritis (Tönnis grade 0-1). RESULTS: MR arthrography identified labral tears in 17 of the 18 hips. Ultrasound had a sensitivity of 94%, a positive predictive value of 94%, and was false negative in only 1 case compared to MR arthrography. The impingement test had the best...... diagnostic ability of the clinical tests, with a sensitivity of 59% and a specificity of 100%. The positive predictive value was 100% while the negative predictive value was 13%. INTERPRETATION: The impingement test is helpful in identifying acetabular labral tears. If this test is negative and if a labral...

Prenatal diagnosis: the irresistible rise of the 'visible fetus'.

Science.gov (United States)

Löwy, Ilana

2014-09-01

Prenatal diagnosis was developed in the 1970s, a result of a partly contingent coming together of three medical innovations-amniocentesis, the study of human chromosomes and obstetrical ultrasound-with a social innovation, the decriminalization of abortion. Initially this diagnostic approach was proposed only to women at high risk of fetal malformations. Later, however, the supervision of the fetus was extended to all pregnant women. The latter step was strongly favoured by professionals' aspiration to prevent the birth of children with Down syndrome, an inborn condition perceived as a source of suffering for families and a burden on public purse. Experts who promoted screening for 'Down risk' assumed that the majority of women who carry a Down fetus will decide to terminate the pregnancy, and will provide a private solution to a public health problem. The generalization of screening for Down risk increased in turn the frequency of diagnoses of other, confirmed or potential fetal pathologies, and of dilemmas linked with such diagnoses. Debates on such dilemmas are usually limited to professionals. The transformation of prenatal diagnosis into a routine medical technology was, to a great extent, an invisible revolution. Copyright © 2013 Elsevier Ltd. All rights reserved.

Long-term effects of prenatal diagnostic x-rays on childhood physical and intellectual development

International Nuclear Information System (INIS)

Yumei Hu; Jiaxiang Yao

1994-01-01

A long-term follow-up study has been conducted on the physical and intellectual development of 1026 children exposed in utero to diagnostic x-rays and of 1191 non-exposed controls in Beijing, Shanghai and Changchun. The fetal absorbed doses ranged from 11.75 to 42.70 mGy. The results showed that there was no significant difference between the two groups in body height, weight and head circumference compared by standard deviations of individual measured parameters from local normal means. The mean score of an intelligence test in the exposed group was slightly lower than that in the control group with a statistically significant difference. However, the residual radiation effects on IQ were no longer significant on the Hotelling T 2 -test and Student's t-test when confounding factors were identified and taken into account by backward stepwise regression analyses. (author)

Quality of Prenatal Care Services in Karabuk Community Health Center

Directory of Open Access Journals (Sweden)

Binali Catak

2012-04-01

Full Text Available The aim of the study was to evaluate the quality and quantity of prenatal care services according to gestastional week in Karabuk Community Health Center (CHC. Methods: In this descriptive study 365 pregnant women was selected as sample among 753 pregnant women registered at Karabuk CHC in 18/01/2011. 93.0% of women in the selected sample has been visited in their homes and the face to face interviews were done. The questionnaire was prepared according to Prenatal Care Management Guidelines (PCMG of Ministry of Health. Findings The number of follow-ups was not complete in 23.7% of 15-24 month, 34.4% of 25-32 month, 52,1% of 33-42 month pregnant women. At least four follow-up visits were completed only in 66,7% of postpartum women. Timing of first visit was after 15th week in 15,6% of women. In follow up visits 62.5% of of women’s height were never measured, in 13,0% the women hearth sound of infants didn’t monitored at least once. Laboratory test numbers were under the level required by PCMG. The delivery conditions weren’t planned in 41,8% of last trimester and postpartum women and training about breastfeeding wasn’t given to 15,5 of the same group. Result In family medicine model in Karabuk CHC developments in number of prenatal follow-up visits were observed, but no substantial improvements were found in quality of prenatal visits. Regular in service trainings shoud be given to family doctors and midwives. The use of prenatal care guideline published by MoH should be increased. Keywords: Prenatal care, pregnancy, timing of first visit, qality of prenatal care [TAF Prev Med Bull 2012; 11(2.000: 153-162

Corticosterone mediates some but not other behavioural changes induced by prenatal stress in rats.

Science.gov (United States)

Salomon, S; Bejar, C; Schorer-Apelbaum, D; Weinstock, M

2011-02-01

The effect of daily varied stress from days 13-21 of gestation in Wistar rats was investigated by tests of learning and memory and anxiogenic behaviour in the 60-day-old offspring of both sexes. Prenatal stress decreased the anogenital distance in males at 1 day of age. Anxiogenic behaviour in the elevated plus maze was seen in prenatally-stressed rats of both genders. There was no significant gender difference in the rate of spatial learning in the Morris water maze but prenatal stress only slowed that of males. In the object recognition test with an inter-trial interval of 40 min, females but not males, discriminated between a familiar and novel object. Prenatal stress did not affect object discrimination in females but feminised that in males. Maternal adrenalectomy with replacement of basal corticosterone levels in the drinking fluid prevented all of the above effects of prenatal stress in the offspring. To mimic the peak corticosterone levels and time course of elevation in response to stress, corticosterone (3 mg/kg) was injected twice (0 and 30 min) on days 13-16 and once on days 17-20 of gestation to adrenalectomised mothers. This treatment re-instated anxiogenic behaviour similar to that induced by prenatal stress, indicating that it is mediated by exposure of the foetal brain to raised levels of corticosterone. However, steroid administration to adrenalectomised dams did not decrease anogenital distance, feminise object recognition memory or slow spatial learning in their male offspring. The findings indicate that other adrenal hormones are necessary to induce these effects of prenatal stress. © 2011 The Authors. Journal of Neuroendocrinology © 2011 Blackwell Publishing Ltd.

Technology diffusion and diagnostic testing for prostate cancer.

Science.gov (United States)

Schroeck, Florian R; Kaufman, Samuel R; Jacobs, Bruce L; Skolarus, Ted A; Miller, David C; Weizer, Alon Z; Montgomery, Jeffrey S; Wei, John T; Shahinian, Vahakn B; Hollenbeck, Brent K

2013-11-01

While the dissemination of robotic prostatectomy and intensity modulated radiotherapy may fuel the increased use of prostatectomy and radiotherapy, these new technologies may also have spillover effects related to diagnostic testing for prostate cancer. Therefore, we examined the association of regional technology penetration with the receipt of prostate specific antigen testing and prostate biopsy. In this retrospective cohort study we included 117,857 men 66 years old or older from the 5% sample of Medicare beneficiaries living in Surveillance, Epidemiology and End Results (SEER) areas from 2003 to 2007. Regional technology penetration was measured as the number of providers performing robotic prostatectomy or intensity modulated radiotherapy per population in a health care market, ie hospital referral region. We assessed the association of technology penetration with the prostate specific antigen testing rate and prostate biopsy using generalized estimating equations. High technology penetration was associated with an increased rate of prostate specific antigen testing (442 vs 425/1,000 person-years, pimpact of technology penetration on prostate specific antigen testing and prostate biopsy was much less than the effect of age, race and comorbidity, eg the prostate specific antigen testing rate per 1,000 person-years was 485 vs 373 for men with only 1 vs 3+ comorbid conditions (ppenetration is associated with a slightly higher rate of prostate specific antigen testing and no change in the prostate biopsy rate. Collectively, our findings temper concerns that adopting new technology accelerates diagnostic testing for prostate cancer. Copyright © 2013 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

Requirements for appropriate evaluation of diagnostic tests in suspected pulmonary embolism

NARCIS (Netherlands)

Sanson, B. J.; Meinders, A. J.; Kraaijenhagen, R. A.; van Beek, E. J.; Büller, H. R.

1999-01-01

In contrast to the development of new drugs, strict guidelines for the development of new diagnostic methods do not exist. A diagnostic test can be made available without proper evaluation of its clinical utility, which can lead to its premature introduction and inappropriate use. In this review

Prenatal 3- and 4-dimensional Ultrasonographic Findings of Giant Fetal Nuchal Hemangioma

Directory of Open Access Journals (Sweden)

Jenn-Jhy Tseng

2007-10-01

Full Text Available A precise prenatal diagnosis of hemangioma may be uncertain although a variety of the antenatal appearances on 2-dimensional sonography have been reported. A 27-year-old primigravida was referred at 32 weeks of gestation for evaluation of a fetal nuchal mass. Two-dimensional sonography showed an extracranial mixed echogenic mass (65 × 54 × 59 mm occupying the posterior neck. Color Doppler imaging revealed intense hypervascularization. Three-dimensional (3D and 4-dimensional (4D sonography showed that the mass was lobulated, with a lumpy internal structure. Nuchal hemangioma was further confirmed by clinical examination and postnatal magnetic resonance imaging. The tumor began to regress in size when the infant was 7 months old. Prenatal 3D/4D ultrasound techniques could be considered as complementary diagnostic tools for such a tumor. They have the advantages of providing accurate and inexpensive virtual reality images through more realistic interactions with the virtualized in utero condition.

Beam Diagnostics for the BNL Energy Recovery Linac Test Facility

International Nuclear Information System (INIS)

Cameron, Peter; Ben-Zvi, Ilan; Blaskiewicz, Michael; Brennan, Michael; Connolly, Roger; Dawson, William; Degen, Chris; DellaPenna, Al; Gassner, David; Kesselman, Martin; Kewish, Jorg; Litvinenko, Vladimir; Mead, Joseph; Oerter, Brian; Russo, Tom; Vetter, Kurt; Yakimenko, Vitaly

2004-01-01

An Energy Recovery Linac (ERL) test facility is presently under construction at BNL. The goals of this test facility are first to demonstrate stable intense CW electron beam with parameters typical for the RHIC e-cooling project (and potentially for eRHIC), second to test novel elements of the ERL (high current CW photo-cathode, superconducting RF cavity with HOM dampers, and feedback systems), and finally to test lattice dependence of stability criteria. Planned diagnostics include position monitors, loss monitors, transverse profile monitors (both optical and wires), scrapers/halo monitors, a high resolution differential current monitor, phase monitors, an energy spread monitor, and a fast transverse monitor (for beam break-up studies and the energy feedback system). We discuss diagnostics challenges that are unique to this project, and present preliminary system specifications. In addition, we include a brief discussion of the timing system

Diagnóstico pré-natal das genodermatoses Prenatal diagnosis of genodermatoses

Directory of Open Access Journals (Sweden)

Maria Carolina de Abreu Sampaio

2007-08-01

Full Text Available O diagnóstico pré-natal está indicado para algumas genodermatoses graves, como a epidermólise bolhosa distrófica recessiva e a epidermólise bolhosa juncional. A biópsia de pele fetal foi introduzida em 1980, mas não pode ser realizada antes da 15a semana de gestação. A análise do DNA fetal é método preciso e pode ser realizado mais precocemente na gestação. No entanto, deve-se conhecer a base molecular da genodermatose, e é essencial determinar a mutação e/ou marcadores informativos nas famílias com criança previamente afetada. O DNA fetal pode ser obtido pela biópsia da vilosidade coriônica ou amniocentese. O diagnóstico genético pré-implantação tem surgido como alternativa que dispensa a interrupção da gestação. Essa técnica, que envolve fertilização in vitro e teste genético do embrião. vem sendo realizada para genodermatoses em poucos centros de referência. A ultra-sonografia é exame não invasivo, mas tem uso limitado no diagnóstico pré-natal de genodermatoses. A ultrasonografia tridimensional geralmente estabelece o diagnóstico tardiamente na gestação, e há apenas relatos anedóticos de diagnóstico pré-natal de genodermatoses usando esse método.Prenatal diagnostic testing is indicated for some severe genodermatoses, such as recessive dystrophic epidermolysis bullosa and junctional epidermolysis bullosa. Fetal skin biopsy was introduced in 1980, but it cannot be performed before 15th gestational week. Fetal DNA analysis is a precise method and can be performed earlier in pregnancy. However, the molecular basis of the genodermatoses must be known and it is essential to determine the gene mutations and/or informative markers in the families with a previously affected child. Fetal DNA can be obtained by chorionic villus sampling or amniocentesis. Preimplantation genetic diagnosis is an alternative approach obviating the need for termination of pregnancy. It involves in vitro fertilization and

Bovine paratuberculosis: a review of the advantages and disadvantages of different diagnostic tests.

Science.gov (United States)

Gilardoni, Liliana R; Paolicchi, Fernando A; Mundo, Silvia L

2012-01-01

Paratuberculosis (PTB), or Johne's disease, is a chronic infectious granulomatous enteritis of ruminants, caused by Mycobacterium avium subspecies paratuberculosis (Map). It is characterized by diarrhea and progressive cachexia, which may cause the death of the animal. Calves are the most susceptible to infection. Infected animals excrete Map mainly by the feces. PTB is endemic worldwide, with high prevalence levels, strong economic impact and public health relevance because of its possible association with Crohn's disease. Although the current reference diagnostic test is identification of Map in the bacterial culture, there are different diagnostic tests to identify infected individuals and/or herds. The sensitivity and specificity of these tests vary according to the stage of the disease in the animals to be evaluated. The correct choice and application of each of these diagnostic tests will ensure their success and may allow to establish a control program. The aim of this work is to review and discuss the different diagnostic tests used in the detection of Map-infected animals, focusing on their advantages and disadvantages.

Divergence-based tests for model diagnostic

Czech Academy of Sciences Publication Activity Database

Hobza, Tomáš; Esteban, M. D.; Morales, D.; Marhuenda, Y.

2008-01-01

Roč. 78, č. 13 (2008), s. 1702-1710 ISSN 0167-7152 R&D Projects: GA MŠk 1M0572 Grant - others:Instituto Nacional de Estadistica (ES) MTM2006-05693 Institutional research plan: CEZ:AV0Z10750506 Keywords : goodness of fit * devergence statistics * GLM * model checking * bootstrap Subject RIV: BB - Applied Statistics, Operational Research Impact factor: 0.445, year: 2008 http://library.utia.cas.cz/separaty/2008/SI/hobza-divergence-based%20tests%20for%20model%20diagnostic.pdf

Prenatal Nitrate Exposure and Childhood Asthma. Influence of Maternal Prenatal Stress and Fetal Sex.

Science.gov (United States)

Bose, Sonali; Chiu, Yueh-Hsiu Mathilda; Hsu, Hsiao-Hsien Leon; Di, Qian; Rosa, Maria José; Lee, Alison; Kloog, Itai; Wilson, Ander; Schwartz, Joel; Wright, Robert O; Cohen, Sheldon; Coull, Brent A; Wright, Rosalind J

2017-12-01

Impact of ambient pollution upon children's asthma may differ by sex, and exposure dose and timing. Psychosocial stress can also modify pollutant effects. These associations have not been examined for in utero ambient nitrate exposure. We implemented Bayesian-distributed lag interaction models to identify sensitive prenatal windows for the influence of nitrate (NO 3 - ) on child asthma, accounting for effect modification by sex and stress. Analyses included 752 mother-child dyads. Daily ambient NO 3 - exposure during pregnancy was derived using a hybrid chemical transport (Geos-Chem)/land-use regression model and natural log transformed. Prenatal maternal stress was indexed by a negative life events score (high [>2] vs. low [≤2]). The outcome was clinician-diagnosed asthma by age 6 years. Most mothers were Hispanic (54%) or black (29%), had a high school education or less (66%), never smoked (80%), and reported low prenatal stress (58%); 15% of children developed asthma. BDILMs adjusted for maternal age, race, education, prepregnancy obesity, atopy, and smoking status identified two sensitive windows (7-19 and 33-40 wk gestation), during which increased NO 3 - was associated with greater odds of asthma, specifically among boys born to mothers reporting high prenatal stress. Cumulative effects of NO 3 - across pregnancy were also significant in this subgroup (odds ratio = 2.64, 95% confidence interval = 1.27-5.39; per interquartile range increase in ln NO 3 - ). Prenatal NO 3 - exposure during distinct sensitive windows was associated with incident asthma in boys concurrently exposed to high prenatal stress.

Real-time remote diagnostic monitoring test-bed in JET

International Nuclear Information System (INIS)

Castro, R.; Kneupner, K.; Vega, J.; De Arcas, G.; Lopez, J.M.; Purahoo, K.; Murari, A.; Fonseca, A.; Pereira, A.; Portas, A.

2010-01-01

Based on the remote experimentation concept oriented to long pulse shots, a test-bed system has been implemented in JET. Its main functionality is the real-time monitoring, on remote, of a reflectometer diagnostic, to visualize different data outputs and status information. The architecture of the system is formed by: the data generator components, the data distribution system, an access control service, and the client applications. In the test-bed there is one data generator, which is the acquisition equipment associated with the reflectometer diagnostic that generates data and status information. The data distribution system has been implemented using a publishing-subscribing technology that receives data from data generators and redistributes them to client applications. And finally, for monitoring, a client application based on JAVA Web Start technology has been used. There are three interesting results from this project. The first one is the analysis of different aspects (data formats, data frame rate, data resolution, etc) related with remote real-time diagnostic monitoring oriented to long pulse experiments. The second one is the definition and implementation of an architecture, flexible enough to be applied to different types of data generated from other diagnostics, and that fits with remote access requirements. Finally, the third result is a secure system, taking into account internal networks and firewalls aspects of JET, and securing the access from remote users. For this last issue, PAPI technology has been used, enabling access control based on user attributes, enabling mobile users to monitor diagnostics in real-time, and enabling the integration of this service into the EFDA Federation (Castro et al., 2008 ).

Real-time remote diagnostic monitoring test-bed in JET

Energy Technology Data Exchange (ETDEWEB)

Castro, R., E-mail: rodrigo.castro@ciemat.e [Asociacion EURATOM/CIEMAT para Fusion, Madrid (Spain); Kneupner, K. [EURATOM/UKAEA Fusion Association, Culham Science Centre, Abingdon, OX14 3DB (United Kingdom); Vega, J. [Asociacion EURATOM/CIEMAT para Fusion, Madrid (Spain); De Arcas, G.; Lopez, J.M. [Universidad Politecnica de Madrid, Grupo I2A2, Madrid (Spain); Purahoo, K. [EURATOM/UKAEA Fusion Association, Culham Science Centre, Abingdon, OX14 3DB (United Kingdom); Murari, A. [Associazione EURATOM-ENEA per la Fusione, Consorzio RFX, 4-35127 Padova (Italy); Fonseca, A. [Associacao EURATOM/IST, Lisbon (Portugal); Pereira, A.; Portas, A. [Asociacion EURATOM/CIEMAT para Fusion, Madrid (Spain)

2010-07-15

Based on the remote experimentation concept oriented to long pulse shots, a test-bed system has been implemented in JET. Its main functionality is the real-time monitoring, on remote, of a reflectometer diagnostic, to visualize different data outputs and status information. The architecture of the system is formed by: the data generator components, the data distribution system, an access control service, and the client applications. In the test-bed there is one data generator, which is the acquisition equipment associated with the reflectometer diagnostic that generates data and status information. The data distribution system has been implemented using a publishing-subscribing technology that receives data from data generators and redistributes them to client applications. And finally, for monitoring, a client application based on JAVA Web Start technology has been used. There are three interesting results from this project. The first one is the analysis of different aspects (data formats, data frame rate, data resolution, etc) related with remote real-time diagnostic monitoring oriented to long pulse experiments. The second one is the definition and implementation of an architecture, flexible enough to be applied to different types of data generated from other diagnostics, and that fits with remote access requirements. Finally, the third result is a secure system, taking into account internal networks and firewalls aspects of JET, and securing the access from remote users. For this last issue, PAPI technology has been used, enabling access control based on user attributes, enabling mobile users to monitor diagnostics in real-time, and enabling the integration of this service into the EFDA Federation (Castro et al., 2008 ).

Prenatal Genetic Counseling (For Parents)

Science.gov (United States)

... Videos for Educators Search English Español Prenatal Genetic Counseling KidsHealth / For Parents / Prenatal Genetic Counseling What's in ... can they help your family? What Is Genetic Counseling? Genetic counseling is the process of: evaluating family ...

Effect of in utero exposure to diagnostic doses of X-rays on the growth and behaviour of mouse

International Nuclear Information System (INIS)

Prakash Hande, M.; Uma Devi, P.

1992-01-01

Intrauterine development, particularly the period of organogenesis is an especially radiosensitive phase in mammals. Teratogenic effect of low dose irradiation has been demonstrated in laboratory animals. Several studies have indicated the vulnerability of the developing human brain to radiation injury and demonstrated changes in postnatal behaviour following intrauterine animal irradiation. However, data are lacking on the comparative response of the different stages of prenatal development to low doses at levels that could result from diagnostic radiation exposure. This study attempts to empirically evaluate the differential response of critical stages in prenatal development of mouse to single low dose exposures to diagnostic X-rays. Data on growth and behaviour are briefly presented. (author). 22 refs., 2 figs., 1 tab

Diagnostic validation of selected serological tests for detecting scrub typhus.

Science.gov (United States)

Koraluru, Munegowda; Bairy, Indira; Varma, Muralidhar; Vidyasagar, Sudha

2015-07-01

Clinical diagnosis of scrub typhus is often difficult because the symptoms are very similar to those of other febrile illness such as dengue, leptospirosis, malaria and other viral hemorrhagic fevers. Though better diagnostic tests are available for rickettsial diseases and scrub typhus elsewhere, the Weil-Felix test is still commonly used in India, mainly because microimmunofluorescence assays (M-IFA) were not available in India till recently and relevant staff had insufficient training. The present study was performed to investigate the performance of M-IFA, IgM ELISA, and Weil-Felix test on 546 non-repeated serum samples from subjects suspected of having scrub typhus. One hundred and forty-three of these 546 samples were positive by M-IFA; these cases were also confirmed clinically to have scrub typhus based on their dramatic responses to doxycycline therapy. IgM ELISA was positive in 122 of the 143 M-IFA positive cases and the Weil-Felix test in 96. Though the Weil-Felix test is a heterophile agglutination test, it was found in this study to have good specificity but far too little sensitivity to use as a routine diagnostic test. IgM ELISA can be a good substitute for M-IFA. Incorporation of multiple prototype antigens on M-IFA slides is likely one of the reasons for its superior performance. As newer and better diagnostic assays become available for scrub typhus diagnosis in developed countries, it will be imperative to also use such tests in other endemic countries to prevent over- or under-diagnosis of scrub typhus. © 2015 The Societies and Wiley Publishing Asia Pty Ltd.

ATTENTION FUNCTIONING IN CHILDREN WITH PRENATAL DRUG EXPOSURE.

Science.gov (United States)

Jaeger, Dominique A; Suchan, Boris; Schölmerich, Axel; Schneider, Dominik T; Gawehn, Nina

2015-01-01

Children born to drug abusers are exposed to teratogenic influences on intrauterine brain development and undergo postnatal withdrawal. We investigated the interplay of different domains and levels of attention functioning in 24 prenatally exposed and 25 nonexposed children who were 5 to 6 years old. Assessment included parent ratings and neuropsychological and electrophysiological methods. Exposed children had a higher prevalence of attention deficit hyperactivity symptoms, tended to have poorer performance in an attention test battery, and showed EEG alterations in P3 and N2c. Findings suggest long-term effects of prenatal drug exposure on specific domains and on different levels of attention functioning. © 2015 Michigan Association for Infant Mental Health.

Children's exposure to diagnostic medical radiation and cancer risk: epidemiologic and dosimetric considerations

Energy Technology Data Exchange (ETDEWEB)

Linet, Martha S.; Rajaraman, Preetha [National Cancer Institute, Radiation Epidemiology Branch, Division of Cancer Epidemiology and Genetics, Bethesda, MD (United States); Kim, Kwang pyo [National Cancer Institute, Radiation Epidemiology Branch, Division of Cancer Epidemiology and Genetics, Bethesda, MD (United States); Kyung Hee University, Department of Nuclear Engineering, Yongin-si, Gyeonggi (Korea)

2009-02-15

While the etiology of most childhood cancers is largely unknown, epidemiologic studies have consistently found an association between exposure to medical radiation during pregnancy and risk of childhood cancer in offspring. The relation between early life diagnostic radiation exposure and occurrence of pediatric cancer risks is less clear. This review summarizes current and historical estimated doses for common diagnostic radiologic procedures as well as the epidemiologic literature on the role of maternal prenatal, children's postnatal and parental preconception diagnostic radiologic procedures on subsequent risk of childhood malignancies. Risk estimates are presented according to factors such as the year of birth of the child, trimester and medical indication for the procedure, and the number of films taken. The paper also discusses limitations of the methods employed in epidemiologic studies to assess pediatric cancer risks, the effects on clinical practice of the results reported from the epidemiologic studies, and clinical and public health policy implications of the findings. Gaps in understanding and additional research needs are identified. Important research priorities include nationwide surveys to estimate fetal and childhood radiation doses from common diagnostic procedures, and epidemiologic studies to quantify pediatric and lifetime cancer risks from prenatal and early childhood exposures to diagnostic radiography, CT, and fluoroscopically guided procedures. (orig.)

Diagnostic Accuracy of Obstructive Airway Adult Test for Diagnosis of Obstructive Sleep Apnea.

Science.gov (United States)

Gasparini, Giulio; Vicini, Claudio; De Benedetto, Michele; Salamanca, Fabrizio; Sorrenti, Giovanni; Romandini, Mario; Bosi, Marcello; Saponaro, Gianmarco; Foresta, Enrico; Laforì, Andreina; Meccariello, Giuseppe; Bianchi, Alessandro; Toraldo, Domenico Maurizio; Campanini, Aldo; Montevecchi, Filippo; Rizzotto, Grazia; Cervelli, Daniele; Moro, Alessandro; Arigliani, Michele; Gobbi, Riccardo; Pelo, Sandro

2015-01-01

The gold standard for the diagnosis of Obstructive Sleep Apnea (OSA) is polysomnography, whose access is however reduced by costs and limited availability, so that additional diagnostic tests are needed. To analyze the diagnostic accuracy of the Obstructive Airway Adult Test (OAAT) compared to polysomnography for the diagnosis of OSA in adult patients. Ninety patients affected by OSA verified with polysomnography (AHI ≥ 5) and ten healthy patients, randomly selected, were included and all were interviewed by one blind examiner with OAAT questions. The Spearman rho, evaluated to measure the correlation between OAAT and polysomnography, was 0.72 (p diagnostic accuracy for the diagnosis of OSA. It has also been shown to be able to discriminate among the different degrees of severity of OSA. Additional large studies aiming to validate this questionnaire as a screening or diagnostic test are needed.

Diagnostic accuracy of physical examination tests of the ankle/foot complex: a systematic review.

Science.gov (United States)

Schwieterman, Braun; Haas, Deniele; Columber, Kirby; Knupp, Darren; Cook, Chad

2013-08-01

Orthopedic special tests of the ankle/foot complex are routinely used during the physical examination process in order to help diagnose ankle/lower leg pathologies. The purpose of this systematic review was to investigate the diagnostic accuracy of ankle/lower leg special tests. A search of the current literature was conducted using PubMed, CINAHL, SPORTDiscus, ProQuest Nursing and Allied Health Sources, Scopus, and Cochrane Library. Studies were eligible if they included the following: 1) a diagnostic clinical test of musculoskeletal pathology in the ankle/foot complex, 2) description of the clinical test or tests, 3) a report of the diagnostic accuracy of the clinical test (e.g. sensitivity and specificity), and 4) an acceptable reference standard for comparison. The quality of included studies was determined by two independent reviewers using the Quality Assessment of Diagnostic Accuracy Studies 2 (QUADAS-2) tool. Nine diagnostic accuracy studies met the inclusion criteria for this systematic review; analyzing a total of 16 special tests of the ankle/foot complex. After assessment using the QUADAS-2, only one study had low risk of bias and low concerns regarding applicability. Most ankle/lower leg orthopedic special tests are confirmatory in nature and are best utilized at the end of the physical examination. Most of the studies included in this systematic review demonstrate notable biases, which suggest that results and recommendations in this review should be taken as a guide rather than an outright standard. There is need for future research with more stringent study design criteria so that more accurate diagnostic power of ankle/lower leg special tests can be determined. 3a.

Eugenesia y diagnóstico prenatal

OpenAIRE

González Salvat, Rosa María; González Labrador, Ignacio

2002-01-01

El uso del diagnóstico prenatal en la práctica de la genética médica ha hecho que se recuerden teorías eugenésicas. Se realizó una revisión histórica de este término y se relacionó con el uso del diagnóstico prenatal (DPN) y el aborto selectivo a la luz de los conocimientos bioéticos actuales. The use of the prenatal diagnosis in the practice of medical genetics has led us to remember eugenic theories. A historical review of this term was made and it was connected with the use of prenatal ...

Prenatal Diagnosis of Congenital Adrenal Hyperplasia.

Science.gov (United States)

Yau, Mabel; Khattab, Ahmed; New, Maria I

2016-06-01

Congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency is a monogenic disorder of adrenal steroidogenesis. To prevent genital ambiguity, in girls, prenatal dexamethasone treatment is administered early in the first trimester. Prenatal genetic diagnosis of CAH and fetal sex determination identify affected female fetuses at risk for genital virilization. Advancements in prenatal diagnosis are owing to improved understanding of the genetic basis of CAH and improved technology. Cloning of the CYP21A2 gene ushered in molecular genetic analysis as the current standard of care. Noninvasive prenatal diagnosis allows for targeted treatment and avoids unnecessary treatment of males and unaffected females. Copyright © 2016 Elsevier Inc. All rights reserved.

Integrated Rapid-Diagnostic-Test Reader Platform on a Cellphone

Science.gov (United States)

Mudanyali, Onur; Dimitrov, Stoyan; Sikora, Uzair; Padmanabhan, Swati; Navruz, Isa; Ozcan, Aydogan

2012-01-01

We demonstrate a cellphone based Rapid-Diagnostic-Test (RDT) reader platform that can work with various lateral flow immuno-chromatographic assays and similar tests to sense the presence of a target analyte in a sample. This compact and cost-effective digital RDT reader, weighing only ~65 grams, mechanically attaches to the existing camera unit of a cellphone, where various types of RDTs can be inserted to be imaged in reflection or transmission modes under light-emitting-diode (LED) based illumination. Captured raw images of these tests are then digitally processed (within less than 0.2 sec/image) through a smart application running on the cellphone for validation of the RDT as well as for automated reading of its diagnostic result. The same smart application running on the cellphone then transmits the resulting data, together with the RDT images and other related information (e.g., demographic data) to a central server, which presents the diagnostic results on a world-map through geo-tagging. This dynamic spatio-temporal map of various RDT results can then be viewed and shared using internet browsers or through the same cellphone application. We tested this platform using malaria, tuberculosis (TB) as well as HIV RDTs by installing it on both Android based smart-phones as well as an iPhone. Providing real-time spatio-temporal statistics for the prevalence of various infectious diseases, this smart RDT reader platform running on cellphones might assist health-care professionals and policy makers to track emerging epidemics worldwide and help epidemic preparedness. PMID:22596243

A comparison of diagnostic tests for lactose malabsorption - which one is the best?

Directory of Open Access Journals (Sweden)

Hovde Øistein

2009-10-01

Full Text Available Abstract Background Perceived milk intolerance is a common complaint, and tests for lactose malabsorption (LM are unreliable. This study assesses the agreement between diagnostic tests for LM and describes the diagnostic properties of the tests. Methods Patients above 18 years of age with suspected LM were included. After oral intake of 25 g lactose, a combined test with measurement of serum glucose (s-glucose and hydrogen (H2 and methane (CH4 in expired air was performed and symptoms were recorded. In patients with discrepancies between the results, the combined test was repeated and a gene test for lactose non-persistence was added. The diagnosis of LM was based on an evaluation of all tests. The following tests were compared: Increase in H2, CH4, H2+CH4 and H2+CH4x2 in expired air, increase in s-glucose, and symptoms. The agreement was calculated and the diagnostic properties described. Results Sixty patients were included, seven (12% had LM. The agreement (kappa-values between the methods varied from 0.25 to 0.91. The best test was the lactose breath test with measurement of the increase in H2 + CH4x2 in expired air. With a cut-off level Conclusion The agreement between commonly used methods for the diagnosis of LM was unsatisfactory. A lactose breath test with measurement of H2 + CH4x2 in expired air had the best diagnostic properties.

Congenital lung malformations: correlation between prenatal and ...

African Journals Online (AJOL)

Aim: Congenital lung malformations are a common finding during prenatal ultrasonography (US). Investigations were completed by means of prenatal MRI and postnatal computed tomographic (CT) scan. The purpose of this study was to compare these prenatal findings with postnatal findings and pathological findings after ...

The role of molecular diagnostic testing in the management of thyroid nodules.

Science.gov (United States)

Moore, Maureen D; Panjwani, Suraj; Gray, Katherine D; Finnerty, Brendan M; Zarnegar, Rasa; Fahey, Thomas J

2017-06-01

Fine needle aspiration (FNA) with cytologic examination remains the standard of care for investigation of thyroid nodules. However, as many as 30% of FNA samples are cytologically indeterminate for malignancy, which confounds clinical management. To reduce the burden of repeat diagnostic testing and unnecessary surgery, there has been extensive investigation into molecular markers that can be detected on FNA specimens to more accurately stratify a patient's risk of malignancy. Areas covered: In this review, the authors discuss recent evidence and progress in molecular markers used in the diagnosis of thyroid cancer highlighting somatic gene alterations, molecular technologies and microRNA analysis. Expert commentary: The goal of molecular markers is to improve diagnostic accuracy and aid clinicians in the preoperative management of thyroid lesions. Modalities such as direct mutation analysis, mRNA gene expression profiling, next-generation sequencing, and miRNA expression profiling have been explored to improve the diagnostic accuracy of thyroid nodule FNA. Although no perfect test has been discovered, molecular diagnostic testing has revolutionized the management of thyroid nodules.

Concordance in diagnostic testing for respiratory pathogens of bighorn sheep

Science.gov (United States)

Walsh, Daniel P.; Cassirer, E. Frances; Bonds, Michael D.; Brown, Daniel R.; Edwards, William H.; Weiser, Glen C.; Drew, Mark L.; Briggs, Robert E.; Fox, Karen A.; Miller, Michael W.; Shanthalingam, Sudarvili; Srikumaran, Subramaniam; Besser, Thomas E.

2016-01-01

Reliable diagnostic tests are essential for disease investigation and management. This is particularly true for diseases of free-ranging wildlife where sampling is logistically difficult precluding retesting. Clinical assays for wildlife diseases frequently vary among laboratories because of lack of appropriate standardized commercial kits. Results of diagnostic testing may also be called into question when investigators report different etiologies for disease outbreaks, despite similar clinical and pathologic findings. To evaluate reliability of diagnostic testing for respiratory pathogens of bighorn sheep (Ovis canadensis), we conducted a series of ring tests across 6 laboratories routinely involved in detection of Mycoplasma ovipneumoniae, Pasteurellaceae, lktA (the Pasteurellaceae gene encoding leukotoxin), and 3 reference laboratories. Consistency of results for replicate samples within laboratories was high (median agreement = 1.0). Agreement between laboratories was high for polymerase chain reaction (PCR) detection of M. ovipneumoniae and culture isolation of Mannheimia spp. and Bibersteinia trehalosi(median agreement = 0.89–0.95, Kappa = 0.65–0.74), and lower for PCR detection of Mannheimiaspp. lktA (median agreement = 0.58, Kappa = 0.12). Most errors on defined status samples were false negatives, suggesting test sensitivity was a greater problem than specificity. However, tests for M. haemolytica and lktA yielded some false positive results. Despite differences in testing protocols, median agreement among laboratories and correct classification of controls for most agents was ≥0.80, meeting or exceeding the standard required by federal proficiency testing programs. This information is valuable for interpreting test results, laboratory quality assessments, and advancing diagnosis of respiratory disease in wild sheep. Published 2016. This article is a U.S. Government work and is in the public domain in the USA.

Prenatal ultrasound diagnosis and outcome of placenta previa accreta after cesarean delivery: a systematic review and meta-analysis.

Science.gov (United States)

Jauniaux, Eric; Bhide, Amar

2017-07-01

Women with a history of previous cesarean delivery, presenting with a placenta previa, have become the largest group with the highest risk for placenta previa accreta. The objective of the study was to evaluate the accuracy of ultrasound imaging in the prenatal diagnosis of placenta accreta and the impact of the depth of villous invasion on management in women presenting with placenta previa or low-lying placenta and with 1 or more prior cesarean deliveries. We searched PubMed, Google Scholar, clinicalTrials.gov, and MEDLINE for studies published between 1982 and November 2016. Criteria for the study were cohort studies that provided data on previous mode of delivery, placenta previa, or low-lying placenta on prenatal ultrasound imaging and pregnancy outcome. The initial search identified 171 records, of which 5 retrospective and 9 prospective cohort studies were eligible for inclusion in the quantitative analysis. The studies were scored on methodological quality using the Quality Assessment of Diagnostic Accuracy Studies tool. The 14 cohort studies included 3889 pregnancies presenting with placenta previa or low-lying placenta and 1 or more prior cesarean deliveries screened for placenta accreta. There were 328 cases of placenta previa accreta (8.4%), of which 298 (90.9%) were diagnosed prenatally by ultrasound. The incidence of placenta previa accreta was 4.1% in women with 1 prior cesarean and 13.3% in women with ≥2 previous cesarean deliveries. The pooled performance of ultrasound for the antenatal detection of placenta previa accreta was higher in prospective than retrospective studies, with a diagnostic odds ratios of 228.5 (95% confidence interval, 67.2-776.9) and 80.8 (95% confidence interval, 13.0-501.4), respectively. Only 2 studies provided detailed data on the relationship between the depth of villous invasion and the number of previous cesarean deliveries, independently of the depth of the villous invasion. A cesarean hysterectomy was performed in

Early cannabinoid exposure influences neuroendocrine and reproductive functions in male mice: I. Prenatal exposure.

Science.gov (United States)

Dalterio, S; Steger, R; Mayfield, D; Bartke, A

1984-01-01

Maternal exposure to delta 9-tetrahydrocannabinol (THC), the major psychoactive constituent in marihuana, or to the non-psychoactive cannabinol (CBN) or cannabidiol (CBD) alters endocrine functions and concentrations of brain biogenic amines in their male offspring. Prenatal CBN exposure on day 18 of gestation resulted in decreased plasma FSH levels, testicular testosterone (T) concentrations, and seminal vesicles weights, but increased plasma levels of luteinizing hormone (LH) and follicle-stimulating hormone (FSH) post-castration in adulthood. Prenatal exposure to THC significantly enhanced the responsiveness of the testes to intratesticular LH injection in vivo and tended to increase human chorionic gonadotropin (hCG)-stimulated T production by decapsulated testes in vitro. In the CBN-exposed mice, hCG-stimulated T production was enhanced, while CBD exposure had no effect. Prenatal THC exposure altered the negative feedback effects of exogenous gonadal steroids in castrated adults, with lower plasma T and FSH levels after 20 micrograms T than in castrated controls. In contrast, CBD-exposed mice had higher levels of LH in plasma post-castration. In CBN-exposed adults, two weeks post-castration the concentration of norepinephrine (NE) and dopamine (DA) in hypothalamus and remaining brain were reduced, while levels of serotonin (5-HT) and its metabolite, 5-HIAA, were elevated compared to that in castrated OIL-controls. Prenatal CBD-exposure also reduced NE and elevated 5-HT and 5-HIAA, but did not affect DA levels post-castration. Concentrations of brain biogenic amines were not influenced by prenatal THC exposure in the present study. A single prenatal exposure to psychoactive or non-psychoactive components of marihuana results in long term alterations in the function of the hypothalamo-pituitary-gonadal axis. Changes in the concentrations of brain biogenic amines may be related to these effects of prenatal cannabinoids on endocrine function in adult male mice.

Lost in Translation? Ethical Challenges of Implementing a New Diagnostic Procedure.

Science.gov (United States)

Schmitz, Dagmar

2016-01-01

Since cell-free DNA (cfDNA) fragments of placental origin can be isolated and analyzed from the blood of pregnant women. Applications of this finding have been developed and implemented in clinical care pathways worldwide at an unprecedented pace and manner. Implementation patterns, however, exhibit considerable insufficiencies. Different "motors" of implementation processes, like the market or various regulatory institutions, can be identified at a national level. Each "motor" entails characteristic ethical challenges which are exemplified impressively by a rising number of case reports.Empirical data demonstrate that there are significant "losses" in the respective translational processes, especially when the results from clinical research are to be translated into the clinical reality of NIPT (the so called "second roadblock" (T2)). These "losses" are perceived in the fields of knowledge transfer, professional standardization and ethical debate. Recommendations of professional organizations often fail to reach general practitioners. Blindsided by the new diagnostic procedure in their clinical practice, professionals in prenatal care express their insecurities with regard to its handling. Ethical debate appears to adhere to pre-existing (and partly already proven to be insufficient) normative frameworks for prenatal testing. While all of these deficits are typical for the implementation processes of many new molecular diagnostic procedures, especially in NIPT, they show a high variability between different nations.A critical assessment of the preferred strategy of implementation against the background of already existing national ethical frameworks is indispensable, if potential adverse effects are to be diminished. The described translational losses seem to be significantly reducible by granting the translational process in roadblock T2 more time.

Effect of prenatal ethanol exposure on sexual motivation in adult rats.

Science.gov (United States)

Ávila, Mara Aparecida P; Marthos, Gabriela Cristina P; Oliveira, Liliane Gibram M; Figueiredo, Eduardo Costa; Giusti-Paiva, Alexandre; Vilela, Fabiana Cardoso

2016-08-01

Maternal alcohol use during pregnancy adversely affects prenatal and postnatal growth and increases the risk of behavioral deficits. The aim of the present study was to evaluate the effect of prenatal exposure to a moderate dose of alcohol on sexual motivation during adulthood. Rats were prenatally exposed to ethanol by feeding pregnant dams a liquid diet containing 25% ethanol-derived calories on days 6 through 19 of gestation. The controls consisted of pair-fed dams (receiving an isocaloric liquid diet containing 0% ethanol-derived calories) and dams with ad libitum access to a liquid control diet. The sexual motivation of offspring was evaluated during adulthood. The results revealed that the male and female pups of dams treated with alcohol exhibited reduced weight gain, which persisted until adulthood. Both male and female adult animals from dams that were exposed to alcohol showed a reduction in the preference score in the sexual motivation test. Taken together, these results provide evidence of the damaging effects of prenatal alcohol exposure on sexual motivation responses in adulthood. Copyright © 2016 Elsevier Inc. All rights reserved.

A systematic review of the diagnostic performance of orthopedic physical examination tests of the hip.

Science.gov (United States)

Rahman, Labib Ataur; Adie, Sam; Naylor, Justine Maree; Mittal, Rajat; So, Sarah; Harris, Ian Andrew

2013-08-30

Previous reviews of the diagnostic performances of physical tests of the hip in orthopedics have drawn limited conclusions because of the low to moderate quality of primary studies published in the literature. This systematic review aims to build on these reviews by assessing a broad range of hip pathologies, and employing a more selective approach to the inclusion of studies in order to accurately gauge diagnostic performance for the purposes of making recommendations for clinical practice and future research. It specifically identifies tests which demonstrate strong and moderate diagnostic performance. A systematic search of Medline, Embase, Embase Classic and CINAHL was conducted to identify studies of hip tests. Our selection criteria included an analysis of internal and external validity. We reported diagnostic performance in terms of sensitivity, specificity, predictive values and likelihood ratios. Likelihood ratios were used to identify tests with strong and moderate diagnostic utility. Only a small proportion of tests reported in the literature have been assessed in methodologically valid primary studies. 16 studies were included in our review, producing 56 independent test-pathology combinations. Two tests demonstrated strong clinical utility, the patellar-pubic percussion test for excluding radiologically occult hip fractures (negative LR 0.05, 95% Confidence Interval [CI] 0.03-0.08) and the hip abduction sign for diagnosing sarcoglycanopathies in patients with known muscular dystrophies (positive LR 34.29, 95% CI 10.97-122.30). Fifteen tests demonstrated moderate diagnostic utility for diagnosing and/or excluding hip fractures, symptomatic osteoarthritis and loosening of components post-total hip arthroplasty. We have identified a number of tests demonstrating strong and moderate diagnostic performance. These findings must be viewed with caution as there are concerns over the methodological quality of the primary studies from which we have extracted our

Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families

Science.gov (United States)

Wang, Li; Qin, Litao; Li, Tao; Liu, Hongjian; Ma, Lingcao; Li, Wan; Wu, Dong; Wang, Hongdan; Guo, Qiannan; Guo, Liangjie; Liao, Shixiu

2018-01-01

Waardenburg syndrome (WS) is an auditory-pigmentary disorder with varying combinations of sensorineural hearing loss and abnormal pigmentation. The present study aimed to investigate the underlying molecular pathology and provide a method of prenatal diagnosis of WS in Chinese families. A total of 11 patients with WS from five unrelated Chinese families were enrolled. A thorough clinical examination was performed on all participants. Furthermore, patients with WS underwent screening for mutations in the following genes: Paired box 3 (PAX3), melanogenesis associated transcription factor (MITF), SRY-box 10, snail family transcriptional repressor 2 and endothelin receptor type B using polymerase chain reaction sequencing. Array-based comparative genomic hybridization was used for specific patients whose sequence results were normal. Following identification of the genotype of the probands and their parents, prenatal genetic diagnosis was performed for family 01 and 05. According to the diagnostic criteria for WS, five cases were diagnosed as WS1, while the other six cases were WS2. Genetic analysis revealed three mutations, including a nonsense mutation PAX3 c.583C>T in family 01, a splice-site mutation MITF c.909G>A in family 03 and an in-frame deletion MITF c.649_651delGAA in family 05. To the best of the authors' knowledge the mutations (c.583C>T in PAX3 and c.909G>A in MITF) were reported for the first time in Chinese people. Mutations in the gene of interest were not identified in family 02 and 04. The prenatal genetic testing of the two fetuses was carried out and demonstrated that the two babies were normal. The results of the present study expanded the range of known genetic mutations in China. Identification of genetic mutations in these families provided an efficient way to understand the causes of WS and improved genetic counseling. PMID:29115496

Impact of Combined Prenatal Ethanol and Prenatal Stress Exposures on Markers of Activity-Dependent Synaptic Plasticity in Rat Dentate Gyrus

OpenAIRE

Staples, Miranda C.; Porch, Morgan W.; Savage, Daniel D.

2014-01-01

Prenatal ethanol exposure and prenatal stress can each cause long-lasting deficits in hippocampal synaptic plasticity and disrupt learning and memory processes. However, the mechanisms underlying these perturbations following a learning event are still poorly understood. We examined the effects of prenatal ethanol exposure and prenatal stress exposure, either alone or in combination, on the cytosolic expression of activity-regulated cytoskeletal (ARC) protein and the synaptosomal expression o...

Prenatal Care: First Trimester Visits

Science.gov (United States)

... care provider will discuss the importance of proper nutrition and prenatal vitamins. Your first prenatal visit is a good time to discuss exercise, sex during pregnancy and other lifestyle issues. You might also discuss your work environment and the use of medications during pregnancy. If ...

Choosing offspring: prenatal genetic testing for thalassaemia and the production of a 'saviour sibling' in China.

Science.gov (United States)

Sui, Suli; Sleeboom-Faulkner, Margaret

2010-02-01

This paper focuses on the pre-natal genetic testing and reproductive decision-making around thalassaemia in China. Findings are based on fieldwork conducted in hospitals and research institutions, interviews with families with thalassaemia-affected children, interviews with geneticists and genetic researchers and a literature review conducted between September and November 2007. The paper aims to provide insight into the ways in which those who carry thalassaemia decide to have a test for the condition and the choices available to prospective parents. The paper also analyses factors affecting reproductive choices and the decision to produce a 'saviour sibling', including financial implications, state family planning policy, images and information conveyed through the media and propaganda, advice and counselling from doctors, psychological pressure from the community and social discrimination. The paper concludes with a discussion on the issues involved in the creation of saviour siblings, some of which are particular to China.

Associations among prenatal stress, maternal antioxidant intakes in pregnancy, and child temperament at age 30 months.

Science.gov (United States)

Lipton, L R; Brunst, K J; Kannan, S; Ni, Y-M; Ganguri, H B; Wright, R J; Bosquet Enlow, M

2017-12-01

Prenatal stress and prenatal nutrition each have demonstrable impact on fetal development, with implications for child neurodevelopment and behavior. However, few studies have examined their joint influences despite evidence of potential interactive effects. We examined associations among prenatal stress, prenatal antioxidant intakes, and child temperament in a sociodemographically diverse pregnancy cohort (N=137 mother-child dyads). In mid-pregnancy, mothers completed an assessment of recent negative life events as a measure of prenatal stress and an assessment of prenatal diet. When the children were 30 months of age, mothers completed the Early Childhood Behavior Questionnaire-Very Short form, which provides scores on child Negative Affectivity, Effortful Control, and Surgency/Extraversion. Linear regressions tested associations between maternal prenatal negative life events and child temperament, and effect modification by maternal prenatal antioxidant intakes (vitamins A, C, and E, magnesium, zinc, selenium, β-carotene). Analyses revealed that increased maternal prenatal negative life events were associated with higher child Negative Affectivity (β=0.08, P=0.009) but not with child Effortful Control (β=-0.03, P=0.39) or Surgency/Extraversion (β=0.04, P=0.14). Prenatal intakes of zinc and selenium modified this effect: Maternal exposure to prenatal negative life events was associated with higher child Negative Affectivity in the presence of lower intakes of zinc and selenium. Modification effects approached significance for vitamins A and C. The results suggest that the combination of elevated stress exposures and lower antioxidant intakes in pregnancy increases the likelihood of heightened child temperamental negative affectivity. Increased antioxidant intakes during pregnancy may protect against influences of prenatal stress on child temperament.

ACOG Committee Opinion No. 731: Group Prenatal Care.

Science.gov (United States)

2018-03-01

Individual prenatal care is intended to prevent poor perinatal outcomes and provide education to women throughout pregnancy, childbirth, and the postpartum period through a series of one-on-one encounters between a woman and her obstetrician or other obstetric care provider. Concerns regarding increasing health care costs, health care provider availability, dissatisfaction with wait times, and the minimal opportunity for education and support associated with the individual care model have given rise to interest in alternative models of prenatal care. One alternative model, group prenatal care, may be beneficial or preferred for some practice settings and patient populations, although individual prenatal care remains standard practice. Group prenatal care models are designed to improve patient education and include opportunities for social support while maintaining the risk screening and physical assessment of individual prenatal care. Bringing patients with similar needs together for health care encounters increases the time available for the educational component of the encounter, improves efficiency, and reduces repetition. Evidence suggests patients have better prenatal knowledge, feel more ready for labor and delivery, are more satisfied with care in prenatal care groups, and initiate breastfeeding more often. There is no evidence that suggests that group prenatal care causes harm. Individual and group care models warrant additional study with a goal of demonstrating differences in outcomes and identifying populations that benefit most from specific care models.

Quality of information accompanying on-line marketing of home diagnostic tests.

Science.gov (United States)

Datta, Adrija K; Selman, Tara J; Kwok, Tony; Tang, Teresa; Khan, Khalid S

2008-01-01

To assess the quality of information provided to consumers by websites marketing medical home diagnostic tests. A cross-sectional analysis of a database developed from searching targeted websites. Data sources were websites written in English which marketed medical home diagnostic tests. A meta-search engine was used to identify the first 20 citations for each type of home diagnostic medical test. Relevant websites limited to those written in English were reviewed independently and in triplicate, with disputes resolved by two further reviewers. Information on the quality of these sites was extracted using a pre-piloted performer. 168 websites were suitable for inclusion in the review. The quality of these sites showed marked variation. Only 24 of 168 (14.2%) complied with at least three-quarters of the quality items and just over half (95 of 168, 56.5%) reported official approval or certification of the test. Information on accuracy of the test marketed was reported by 87 of 168 (51.7%) websites, with 15 of 168 (8.9%) providing a scientific reference. Instructions for use of the product were found in 97 of 168 (57.9%). However, the course of action to be taken after obtaining the test result was stated in only 63 of 168 (37.5%) for a positive result and 43 of 168 (25.5%) for a negative result. The quality of information posted on commercial websites marketing home tests online is unsatisfactory and potentially misleading for consumers.

Women's perspectives on the ethical implications of non-invasive prenatal testing: a qualitative analysis to inform health policy decisions.

Science.gov (United States)

Vanstone, Meredith; Cernat, Alexandra; Nisker, Jeff; Schwartz, Lisa

2018-04-16

Non-Invasive Prenatal Testing (NIPT) is a technology which provides information about fetal genetic characteristics (including sex) very early in pregnancy by examining fetal DNA obtained from a sample of maternal blood. NIPT is a morally complex technology that has advanced quickly to market with a strong push from industry developers, leaving many areas of uncertainty still to be resolved, and creating a strong need for health policy that reflects women's social and ethical values. We approach the need for ethical policy-making by studying the use of NIPT and emerging policy in the province of Ontario, Canada. Using an adapted version of constructivist grounded theory, we conducted interviews with 38 women who have had personal experiences with NIPT. We used an iterative process of data collection and analysis and a staged coding strategy to conduct a descriptive analysis of ethics issues identified implicitly and explicitly by women who have been affected by this technology. The findings of this paper focus on current ethical issues for women seeking NIPT, including place in the prenatal pathway, health care provider counselling about the test, industry influence on the diffusion of NIPT, consequences of availability of test results. Other issues gain relevance in the context of future policy decisions regarding NIPT, including funding of NIPT and principles that may govern the expansion of the scope of NIPT. These findings are not an exhaustive list of all the potential ethical issues related to NIPT, but rather a representation of the issues which concern women who have personal experience with this test. Women who have had personal experience with NIPT have concerns and priorities which sometimes contrast dramatically with the theoretical ethics literature. These findings suggest the importance of engaging patients in ethical deliberation about morally complex technologies, and point to the need for more deliberative patient engagement work in this area.

Evidence Based Medicine; Positive and Negative Likelihood Ratios of Diagnostic Tests

Directory of Open Access Journals (Sweden)

Alireza Baratloo

2015-10-01

Full Text Available In the previous two parts of educational manuscript series in Emergency, we explained some screening characteristics of diagnostic tests including accuracy, sensitivity, specificity, and positive and negative predictive values. In the 3rd  part we aimed to explain positive and negative likelihood ratio (LR as one of the most reliable performance measures of a diagnostic test. To better understand this characteristic of a test, it is first necessary to fully understand the concept of sensitivity and specificity. So we strongly advise you to review the 1st part of this series again. In short, the likelihood ratios are about the percentage of people with and without a disease but having the same test result. The prevalence of a disease can directly influence screening characteristics of a diagnostic test, especially its sensitivity and specificity. Trying to eliminate this effect, LR was developed. Pre-test probability of a disease multiplied by positive or negative LR can estimate post-test probability. Therefore, LR is the most important characteristic of a test to rule out or rule in a diagnosis. A positive likelihood ratio > 1 means higher probability of the disease to be present in a patient with a positive test. The further from 1, either higher or lower, the stronger the evidence to rule in or rule out the disease, respectively. It is obvious that tests with LR close to one are less practical. On the other hand, LR further from one will have more value for application in medicine. Usually tests with 0.1 < LR > 10 are considered suitable for implication in routine practice.

Development of an Attitudes Measure for Prenatal Screening in Diverse Populations

Science.gov (United States)

Posner, S. F.; Learman, L. A.; Gates, E. A.; Washington, A. E.; Kuppermann, M.

2004-01-01

Background: Prenatal screening for chromosomal abnormalities is routinely offered to all pregnant women who present for care by their 20th gestational week. Not all women, however, choose to undergo one of these tests, and choice of which test(s) to undergo also vary. The reasons for variation in screening test behavior have not been fully…

Developmental programming: Impact of prenatal exposure to bisphenol-A and methoxychlor on steroid feedbacks in sheep

Energy Technology Data Exchange (ETDEWEB)

Abi Salloum, Bachir; Steckler, Teresa L.; Herkimer, Carol; Lee, James S. [Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109 (United States); Padmanabhan, Vasantha, E-mail: vasantha@umich.edu [Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109 (United States); The Reproductive Sciences Program, University of Michigan, Ann Arbor, MI 48109 (United States)

2013-05-01

Bisphenol-A (BPA), a polymer used in plastics manufacturing, and methoxychlor (MXC), a pesticide, are endocrine disrupting compounds with estrogenic and anti-androgenic properties. Prenatal BPA or MXC treatment induces reproductive defects in sheep with BPA causing prepubertal luteinizing hormone (LH) hypersecretion and dampening of periovulatory LH surges and MXC lengthening follicular phase and delaying the LH surge. In this study, we addressed the underlying neuroendocrine defects by testing the following hypotheses: 1) prenatal BPA, but not MXC reduces sensitivity to estradiol and progesterone negative feedback, 2) prenatal BPA, but not MXC increases pituitary responsiveness to gonadotropin releasing hormone (GnRH), and 3) prenatal BPA dampens LH surge response to estradiol positive feedback challenge while prenatal MXC delays the timing of the LH surge. Pregnant sheep were treated with either 1) 5 mg/kg/day BPA (produces approximately twice the level found in human circulation, n = 8), 2) 5 mg/kg/day MXC (the lowest observed effect level stated in the EPA National Toxicology Program's Report; n = 6), or 3) vehicle (cotton seed oil: C: n = 6) from days 30 to 90 of gestation. Female offspring of these ewes were ovariectomized at 21 months of age and tested for progesterone negative, estradiol negative, estradiol positive feedback sensitivities and pituitary responsiveness to GnRH. Results revealed that sensitivity to all 3 feedbacks as well as pituitary responsiveness to GnRH were not altered by either of the prenatal treatments. These findings suggest that the postpubertal reproductive defects seen in these animals may have stemmed from ovarian defects and the steroidal signals emanating from them. - Highlights: ► Prenatal BPA/MXC does not affect reproductive neuroendocrine steroid feedbacks. ► Prenatal BPA or MXC treatment failed to alter pituitary sensitivity to GnRH. ► LH excess in BPA-treated sheep may be due to reduced ovarian feedback signals.

Developmental programming: Impact of prenatal exposure to bisphenol-A and methoxychlor on steroid feedbacks in sheep

International Nuclear Information System (INIS)

Abi Salloum, Bachir; Steckler, Teresa L.; Herkimer, Carol; Lee, James S.; Padmanabhan, Vasantha

2013-01-01

Bisphenol-A (BPA), a polymer used in plastics manufacturing, and methoxychlor (MXC), a pesticide, are endocrine disrupting compounds with estrogenic and anti-androgenic properties. Prenatal BPA or MXC treatment induces reproductive defects in sheep with BPA causing prepubertal luteinizing hormone (LH) hypersecretion and dampening of periovulatory LH surges and MXC lengthening follicular phase and delaying the LH surge. In this study, we addressed the underlying neuroendocrine defects by testing the following hypotheses: 1) prenatal BPA, but not MXC reduces sensitivity to estradiol and progesterone negative feedback, 2) prenatal BPA, but not MXC increases pituitary responsiveness to gonadotropin releasing hormone (GnRH), and 3) prenatal BPA dampens LH surge response to estradiol positive feedback challenge while prenatal MXC delays the timing of the LH surge. Pregnant sheep were treated with either 1) 5 mg/kg/day BPA (produces approximately twice the level found in human circulation, n = 8), 2) 5 mg/kg/day MXC (the lowest observed effect level stated in the EPA National Toxicology Program's Report; n = 6), or 3) vehicle (cotton seed oil: C: n = 6) from days 30 to 90 of gestation. Female offspring of these ewes were ovariectomized at 21 months of age and tested for progesterone negative, estradiol negative, estradiol positive feedback sensitivities and pituitary responsiveness to GnRH. Results revealed that sensitivity to all 3 feedbacks as well as pituitary responsiveness to GnRH were not altered by either of the prenatal treatments. These findings suggest that the postpubertal reproductive defects seen in these animals may have stemmed from ovarian defects and the steroidal signals emanating from them. - Highlights: ► Prenatal BPA/MXC does not affect reproductive neuroendocrine steroid feedbacks. ► Prenatal BPA or MXC treatment failed to alter pituitary sensitivity to GnRH. ► LH excess in BPA-treated sheep may be due to reduced ovarian feedback signals

The dilemma of diagnostic testing for Prader-Willi syndrome

Science.gov (United States)

Hung, Dorothy

2017-01-01

Although Prader-Willi syndrome (PWS) is a well-described clinical dysmorphic syndrome, DNA testing is required for a definitive diagnosis. A definitive diagnosis can be made in approximately 99% of cases using DNA testing; there are a number of DNA tests that can be used for this purpose, although there is no set standard algorithm of testing. The dilemma arises because of the complex genetic mechanisms at the basis of PWS, which need to be elucidated. To establish the molecular mechanism with a complete work up, involves at least 2 tests. Here we discuss the commonly used tests currently available and suggest a cost—effective approach to diagnostic testing. PMID:28164030

Prenatal choline supplementation mitigates behavioral alterations associated with prenatal alcohol exposure in rats.

Science.gov (United States)

Thomas, Jennifer D; Idrus, Nirelia M; Monk, Bradley R; Dominguez, Hector D

2010-10-01

Prenatal alcohol exposure can alter physical and behavioral development, leading to a range of fetal alcohol spectrum disorders. Despite warning labels, pregnant women continue to drink alcohol, creating a need to identify effective interventions to reduce the severity of alcohol's teratogenic effects. Choline is an essential nutrient that influences brain and behavioral development. Recent studies indicate that choline supplementation can reduce the teratogenic effects of developmental alcohol exposure. The present study examined whether choline supplementation during prenatal ethanol treatment could mitigate the adverse effects of ethanol on behavioral development. Pregnant Sprague-Dawley rats were intubated with 6 g/kg/day ethanol in a binge-like manner from gestational days 5-20; pair-fed and ad libitum chow controls were included. During treatment, subjects from each group were intubated with either 250 mg/kg/day choline chloride or vehicle. Spontaneous alternation, parallel bar motor coordination, Morris water maze, and spatial working memory were assessed in male and female offspring. Subjects prenatally exposed to alcohol exhibited delayed development of spontaneous alternation behavior and deficits on the working memory version of the Morris water maze during adulthood, effects that were mitigated with prenatal choline supplementation. Neither alcohol nor choline influenced performance on the motor coordination task. These data indicate that choline supplementation during prenatal alcohol exposure may reduce the severity of fetal alcohol effects, particularly on alterations in tasks that require behavioral flexibility. These findings have important implications for children of women who drink alcohol during pregnancy. © 2010 Wiley-Liss, Inc.

Prenatal testing among women pregnant after assisted reproductive techniques in Denmark 1995-2000: a national cohort study

DEFF Research Database (Denmark)

Gjerris, A.C.; Loft, A.; Pinborg, A.

2008-01-01

BACKGROUND: Women pregnant after assisted reproductive techniques (ART) are generally older than women with spontaneously conceived pregnancies, and are consequently more likely to carry a child affected by a chromosomal disorder. Furthermore, a significantly increased rate of chromosomal....... The rate of karyotype aberrations detected by prenatal testing was 2.7% (43/1586), whereas the overall rate of pre- and post-natally detected aberrations was 0.6% (62/9625). Chromosome aberrations were more common in the ICSI-treated group compared with the IVF-treated group [1.3% (30/2297) versus 0.5% (32....../6957), P group of high-risk pregnancies with regard to chromosomal aberrations, but nevertheless...

Cognitive factors contributing to spelling performance in children with prenatal alcohol exposure.

Science.gov (United States)

Glass, Leila; Graham, Diana M; Akshoomoff, Natacha; Mattson, Sarah N

2015-11-01

Heavy prenatal alcohol exposure is associated with impaired school functioning. Spelling performance has not been comprehensively evaluated. We examined whether children with heavy prenatal alcohol exposure demonstrate deficits in spelling and related abilities, including reading, and tested whether there are unique underlying mechanisms for observed deficits in this population. Ninety-six school-age children made up 2 groups: children with heavy prenatal alcohol exposure (AE, n = 49) and control children (CON, n = 47). Children completed select subtests from the Wechsler Individual Achievement Test-Second Edition and the NEPSY-II. Group differences and relations between spelling and theoretically related cognitive variables were evaluated using multivariate analysis of variance and Pearson correlations. Hierarchical regression analyses were used to assess contributions of group membership and cognitive variables to spelling performance. The specificity of these deficits and underlying mechanisms was tested by examining the relations between reading ability, group membership, and cognitive variables. Groups differed significantly on all variables. Group membership and phonological processing significantly contributed to spelling performance, whereas for reading, group membership and all cognitive variables contributed significantly. For both reading and spelling, group × working memory interactions revealed that working memory contributed independently only for alcohol-exposed children. Alcohol-exposed children demonstrated a unique pattern of spelling deficits. The relation of working memory to spelling and reading was specific to the AE group, suggesting that if prenatal alcohol exposure is known or suspected, working memory ability should be considered in the development and implementation of explicit instruction. (c) 2015 APA, all rights reserved).

Prenatal and Postnatal Management of Hydronephrosis

Science.gov (United States)

Rao, Pravin K.; Palmer, Jeffrey S.

2009-01-01

The majority of pregnant women in the U.S. undergo prenatal ultrasonography and approximately 0.5% of these examinations will detect fetal malformations. Up to one-half of these abnormalities include the genitourinary system and the most common urological finding is hydronephrosis. Some conditions associated with prenatal hydronephrosis portend a poor prognosis, while others can follow a fairly benign course. This review focuses on the definition and prenatal assessment of hydronephrosis, fetal intervention, and postnatal management. PMID:19618087

Decision-making for non-invasive prenatal testing for Down syndrome: Hong Kong Chinese women's preferences for individual vs relational autonomy.